Preferred Label : deficiency;
Origin ID : Q000172;
UMLS CUI : C1623416;
Automatic exact mappings (from CISMeF team)
- False automatic mappings
- See also (suggested by CISMeF)
- Semantic type(s)
https://www.has-sante.fr/jcms/p_3426411/fr/ghryvelin-acetate-de-macimoreline-diagnostic-du-deficit-en-hormone-de-croissance-ghd
2023
false
false
false
France
macimorelin
insurance, health, reimbursement
Growth Hormone Deficiency
administration, oral
diagnostic uses of chemicals
macimorelin acetate
adult
evaluation of the transparency committee
macimorelin
growth hormone
---
https://www.has-sante.fr/jcms/p_3262535/fr/acidurie-glutarique-type-1
2021
false
false
false
France
case management
amino acid metabolism, inborn errors
amino acid metabolism, inborn errors
brain diseases, metabolic
brain diseases, metabolic
brain diseases, metabolic
brain diseases, metabolic
amino acid metabolism, inborn errors
amino acid metabolism, inborn errors
carnitine
lysine
dietary supplements
practice guideline
Glutaric Acidemia I
amino acid metabolism, inborn errors
brain diseases, metabolic
Glutaryl-CoA dehydrogenase
---
https://presse.inserm.fr/un-manque-dhormones-placentaires-pourrait-jouer-un-role-dans-lapparition-de-deficits-neurodeveloppementaux-2/43689
2021
false
false
false
France
French
journal article
placental hormones
Neurodevelopmental Disorders
---
https://www.has-sante.fr/jcms/p_3258964/fr/givlaari
2021
false
false
false
France
Givosiran
givosiran
acetylgalactosamine
pyrrolidines
insurance, health, reimbursement
adult
porphyria, acute hepatic
injections, subcutaneous
evaluation of the transparency committee
porphyrias, hepatic
porphobilinogen synthase
porphobilinogen synthase
givosiran
---
https://presse.inserm.fr/malvoyance-causee-par-la-dmla-decouverte-dun-biomarqueur-sanguin-pour-evaluer-le-risque-lie-a-lalimentation/43296
2021
false
false
false
France
French
journal article
macular degeneration
risk factors
fatty acids, Omega-3
---
https://www.ema.europa.eu/en/medicines/human/EPAR/givlaari
2020
false
false
false
United Kingdom
French
English
treatment outcome
syndication feed
summary of product characteristics
package leaflet
Givosiran
Givosiran
acetylgalactosamine
pyrrolidines
acute disease
porphyrias, hepatic
drug approval
europe
product surveillance, postmarketing
adult
adolescent
injections, subcutaneous
drug interactions
pregnancy
breast feeding
drug evaluation, preclinical
porphyria, acute hepatic
givosiran
porphobilinogen synthase
porphobilinogen synthase
givosiran
givosiran
---
https://www.has-sante.fr/jcms/p_3191915/fr/givlaari
2020
false
false
false
France
Givosiran
Givosiran
acetylgalactosamine
pyrrolidines
givosiran
injections, subcutaneous
treatment outcome
insurance, health, reimbursement
adult
porphyrias, hepatic
acute disease
porphyria, acute hepatic
guidelines for drug use
continuity of patient care
evaluation of the transparency committee
porphobilinogen synthase
porphobilinogen synthase
givosiran
givosiran
---
https://www.has-sante.fr/jcms/p_3108936/fr/genotonorm
2019
false
false
false
France
growth hormone
adult
Somatotropin Deficiency
treatment outcome
somatropin
insurance, health, reimbursement
evaluation of the transparency committee
human growth hormone
---
https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/depistage-des-erreurs-innees-du-metabolisme.html
2019
false
false
false
Canada
infant, newborn
canada
Methylcrotonyl-CoA Carboxylase Deficiency
hyperargininemia
HHH syndrome
CTNL1
neonatal-onset citrullinemia type 2
methylmalonic acidemia
propionic acidemia
health technology assessment
tandem mass spectrometry
metabolism, inborn errors
mass screening
inborn errors of metabolism screen
ornithine
ornithine
hyperammonemia
urea cycle disorders, inborn
citrullinemia
amino acid metabolism, inborn errors
---
https://www.has-sante.fr/jcms/p_3108982/fr/norditropine
2019
false
false
false
France
somatropin
growth hormone
treatment outcome
insurance, health, reimbursement
Growth Hormone Deficiency
adult
evaluation of the transparency committee
human growth hormone
---
https://www.ema.europa.eu/en/medicines/human/EPAR/macimorelin-aeterna-zentaris
2019
false
false
false
United Kingdom
French
English
syndication feed
summary of product characteristics
package leaflet
drug evaluation
diagnostic uses of chemicals
drug approval
europe
macimorelin
Decreased response to growth hormone stimulation test
human growth hormone
adult
administration, oral
pituitary gland
drug interactions
pregnancy
breast feeding
macimorelin
indoles
tryptophan
---
https://www.has-sante.fr/jcms/p_3108930/fr/nutropinaq
2019
false
false
false
France
Growth Hormone Deficiency
adult
treatment outcome
insurance, health, reimbursement
somatropin
human growth hormone
growth hormone
evaluation of the transparency committee
---
https://www.has-sante.fr/jcms/p_3108939/fr/umatrope
2019
false
false
false
France
somatropin
adult
Growth Hormone Deficiency
treatment outcome
growth hormone
insurance, health, reimbursement
evaluation of the transparency committee
human growth hormone
---
https://www.has-sante.fr/portail/jcms/c_2855997/fr/ravicti
https://www.has-sante.fr/portail/jcms/c_2855997/fr/ravicti-phenylbutyrate-de-glycerol-medicament-des-voies-digestives-et-du-metabolisme
2018
false
false
false
France
French
treatment outcome
glycerol phenylbutyrate
glycerol phenylbutyrate
urea cycle disorders, inborn
adult
adolescent
child
infant
carbamoyl-phosphate synthase i deficiency disease
ornithine carbamoyltransferase deficiency disease
argininosuccinic aciduria
hyperargininemia
citrullinemia
HHH syndrome
administration, oral
Enteral Route of Administration
Gastroenteral route (qualifier value)
evaluation of the transparency committee
guidelines for drug use
ornithine
hyperammonemia
phenylbutyrates
glycerol
glycerol
---
https://www.has-sante.fr/portail/jcms/c_2877050/fr/granions-de-zinc
2018
false
false
false
France
zinc gluconate
acrodermatitis enteropathica
treatment outcome
administration, oral
other therapeutic products
insurance, health, reimbursement
evaluation of the transparency committee
zinc compounds
gluconic acid
acrodermatitis
zinc
zinc
gluconates
---
https://asdglut1.wixsite.com/asdglut1
false
false
false
France
French
association of patients
glucose transporter type 1
---
https://www.has-sante.fr/portail/jcms/c_2772416/fr/rubozinc
https://www.has-sante.fr/portail/jcms/c_1250140/rubozinc
https://www.has-sante.fr/portail/jcms/c_677471/rubozinc
https://www.has-sante.fr/portail/jcms/c_399657/rubozinc-15-mg-gelules-b/30
2017
false
France
French
acrodermatitis enteropathica
gluconic acid
zinc compounds
gluconates
administration, oral
insurance, health, reimbursement
acne vulgaris
acrodermatitis
other anti-acne preparations for systemic use
zinc gluconate
evaluation of the transparency committee
zinc
zinc
---
Strimvelis - autologous CD34 enriched cell fraction that contains CD34 cells transduced
with retroviral vector that encodes for the human ADA cDNA sequence
https://www.ema.europa.eu/medicines/human/EPAR/Strimvelis
2016
false
false
false
United Kingdom
French
English
syndication feed
summary of product characteristics
package leaflet
drug evaluation
drug approval
europe
treatment outcome
orphan drug production
severe combined immunodeficiency due to adenosine deaminase deficiency
severe combined immunodeficiency due to adenosine deaminase deficiency
gene therapy
Cell positive for CD34 antigen (cell)
Autologous Bone Marrow Transplantation
transplantation, autologous
infusions, intravenous
product surveillance, postmarketing
antigens, CD34
hematopoietic stem cell transplantation
drug evaluation, preclinical
genetic therapy
adenosine deaminase
adenosine deaminase
agammaglobulinemia
severe combined immunodeficiency
adenosine deaminase
agammaglobulinemia
severe combined immunodeficiency
---
http://www.has-sante.fr/portail/jcms/c_2608629/fr/calciprat-vitamine-d3
http://www.has-sante.fr/portail/jcms/c_1018489/calciprat-vitamine-d3
2016
false
France
French
vitamin d deficiency
calcium deficiency
calcium
vitamins
cholecalciferol
drug combinations
bone density conservation agents
calcium carbonate
administration, oral
Calcium, combinations with vitamin D and/or other drugs
insurance, health, reimbursement
dietary supplements
deficiency diseases
aged
adult
osteoporosis
treatment outcome
evaluation of the transparency committee
---
http://www.planetesante.ch/Mag-sante/Ma-sante-au-quotidien/Et-si-c-etait-un-manque-de-fer
2015
false
false
false
Switzerland
French
scientific and technical information
iron
---
https://www.ema.europa.eu/medicines/human/EPAR/Ravicti
2015
false
false
false
United Kingdom
French
English
treatment outcome
syndication feed
summary of product characteristics
package leaflet
drug evaluation
drug approval
europe
orphan drug production
glycerol phenylbutyrate
glycerol phenylbutyrate
glycerol phenylbutyrate
urea cycle disorders, inborn
adult
adolescent
child
infant
carbamoyl-phosphate synthase i deficiency disease
ornithine carbamoyltransferase deficiency disease
argininosuccinic aciduria
hyperargininemia
citrullinemia
HHH syndrome
continuity of patient care
administration, oral
Enteral Route of Administration
product surveillance, postmarketing
Gastroenteral route (qualifier value)
drug interactions
pregnancy
breast feeding
drug evaluation, preclinical
ornithine
hyperammonemia
phenylbutyrates
glycerol
glycerol
phenylbutyrates
glycerol
---
http://www.revmed.ch/RMS/2014/RMS-N-453/L-homme-vieillissant-approche-globale-du-deficit-androgenique-lie-a-l-age-et-de-la-dysfonction-erectile
2014
false
false
false
Switzerland
French
journal article
Androgen deficiency
androgens
aged
erectile dysfunction
erectile dysfunction
deficiency diseases
disease management
deficiency diseases
erectile dysfunction
---
http://www.revmed.ch/RMS/2014/RMS-N-439/Deficiences-hormonales-du-sujet-age-faut-il-les-traiter
2014
false
false
false
Switzerland
French
journal article
aged
insulins
hypothyroidism
thyrotropin
growth hormone
dehydroepiandrosterone
testosterone
hormones
dehydroepiandrosterone
testosterone
insulin
growth hormone
hormones
Adrenocortical steroid therapy
corticosteroid therapy
---
http://www.lefaitmedical.ch/fr/articles/femme-fer-et-fatigue-82-538
2014
false
false
false
Switzerland
French
journal article
women
women's health
fatigue
iron
---
http://www.cochrane.org/fr/CD009384/la-supplementation-en-zinc-pour-la-prevention-de-la-mortalite-de-la-morbidite-et-du-retard-de-croissance-chez-les-enfants-ages-de-6-mois-a-12-ans
2014
false
false
false
France
United Kingdom
French
review of literature
french abstract
zinc
infant
infant mortality
growth
zinc
child
treatment outcome
growth disorders
---
https://devsante.org/articles/carence-en-fer-chez-l-enfant
2014
false
false
false
false
France
French
iron
scientific and technical information
iron
anemia, iron-deficiency
anemia, iron-deficiency
diet
infant
child
anemia, iron-deficiency
---
https://www.orpha.net/data/patho/Pub/fr/DeficitMCAD-FRfrPub3570.pdf
2014
false
false
false
France
French
patient education handout
medium chain acyl CoA dehydrogenase deficiency
Acyl-CoA dehydrogenase
lipid metabolism, inborn errors
signs and symptoms
lipid metabolism, inborn errors
lipid metabolism, inborn errors
prenatal diagnosis
lipid metabolism, inborn errors
Mainstreaming, Education
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=42
2014
false
France
French
resource guides
Acyl-CoA dehydrogenase
medium chain acyl CoA dehydrogenase deficiency
scientific and technical information
---
https://www.revmed.ch/RMS/2013/RMS-373/Marqueurs-diagnostiques-de-la-carence-en-fer-lequel-choisir
2013
Switzerland
French
iron
journal article
deficiency diseases
---
https://www.revmed.ch/RMS/2013/RMS-379/Deficiences-micronutritionnelles-chez-les-patients-obeses
2013
Switzerland
French
obesity
journal article
micronutrients
avitaminosis
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=796
http://www.orpha.net/data/patho/Pro/fr/Urgences_GangliosidoseGM2-frPro21352.pdf
2013
France
French
sandhoff disease
rare diseases
signs and symptoms
sandhoff disease
sandhoff disease
hexosaminidase A
hexosaminidase B
sandhoff disease
emergency treatment
practice guideline
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=845
https://www.orpha.net/data/patho/Pro/fr/Urgences_GangliosidoseGM2-frPro21352.pdf
2013
France
French
hexosaminidase A
Tay-Sachs disease, AB variant
tay-sachs disease
emergency treatment
practice guideline
tay-sachs disease
---
https://www.amub-ulb.be/system/files/rmb/old/936
2013
Belgium
French
journal article
iron
iron
iron overload
Increased circulating ferritin concentration
---
http://www.cochrane.org/fr/CD008840
2013
United Kingdom
France
French
review of literature
homocystinuria
infant, newborn
health technology assessment
neonatal screening
cystathionine beta-Synthase
french abstract
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=73272
France
French
popular works
rare diseases
insulin-like growth factor i
growth disorders
hearing loss
intellectual disability
disabled persons
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=722
France
French
plasminogen
rare diseases
plasminogen
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=71529
France
French
obesity
rare diseases
receptor, melanocortin, type 4
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=71528
France
French
obesity
proprotein convertase 1
rare diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=715
France
French
rare diseases
phosphorylase kinase
glycogen storage disease
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=75501
France
French
rare diseases
ehlers-danlos syndrome
fibronectins
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=75496
France
French
proteoglycans
dermatan sulfate
galactosyltransferases
rare diseases
dermatan sulfate
ehlers-danlos syndrome
proteodermatan sulfate
xylosylprotein 4-beta-galactosyltransferase
galactosyltransferases
Ehlers-Danlos syndrome, progeroid form
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79
France
French
alpha-2-Antiplasmin
rare diseases
anti-plasmin deficiency, congenital
hemorrhagic disorders
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=785
France
French
scientific and technical information
rare diseases
receptors, estrogen
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79507
France
French
popular works
rare diseases
muscle hypotonia
microcephaly
failure to thrive
glutathione transferase
disabled persons
leukotriene-C4 synthase
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3315
2012
true
France
French
resource guides
methyltransferases
rare diseases
thiopurine methyltransferase
thiopurine S methyltranferase deficiency
drug hypersensitivity
methyltransferases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=632
France
French
genetic diseases, X-linked
dwarfism
human growth hormone
hypogammaglobulinemia and isolated growth hormone deficiency, X-linked
agammaglobulinemia
rare diseases
---
http://amsao.free.fr/
France
French
complement C1 inhibitor protein
hereditary angioedema types I and II
association of patients
---
http://www.ag1-23soleil.fr/
France
French
association of patients
Glutaric Acidemia I
Glutaryl-CoA dehydrogenase
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=868
2012
false
France
French
English
scientific and technical information
Triose-Phosphate isomerase
infant
---
https://www.revmed.ch/RMS/2012/RMS-344/Statut-en-vitamines-et-en-oligo-elements-impact-des-medicaments
2012
Switzerland
French
trace elements
journal article
avitaminosis
Drug-Related side effects and adverse reactions
---
https://www.revmed.ch/RMS/2012/RMS-346/Carences-en-vitamine-B12-et-fer-du-diagnostic-au-suivi
2012
Switzerland
French
vitamin b 12 deficiency
iron
journal article
case reports
ferritins
vitamin b 12 deficiency
---
https://www.amub-ulb.be/system/files/rmb/old/859
2012
Belgium
French
andropause
testosterone
testosterone
journal article
---
https://www.revmed.ch/RMS/2012/RMS-360/Oligoelements-en-Suisse-et-en-Europe
2012
Switzerland
French
journal article
trace elements
resuscitation
---
https://www.revmed.ch/RMS/2012/RMS-364/Carence-en-fer-sans-anemie-ou-en-est-on-en-2012
2012
Switzerland
French
iron
journal article
deficiency diseases
iron
---
http://www.cochrane.org/fr/CD009755
2012
France
United Kingdom
French
french abstract
meta-analysis
micronutrients
pregnant women
pregnancy
acquired immunodeficiency syndrome
hiv infections
breast feeding
treatment outcome
micronutrients
pregnancy complications, infectious
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3467
2012
true
France
French
rare diseases
xanthine
xanthine dehydrogenase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=354
2012
false
France
French
gangliosidosis, GM1
gangliosidosis, GM1
signs and symptoms
rare diseases
beta-Galactosidase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2394
2012
false
France
French
dihydrolipoamide dehydrogenase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=976
2012
true
France
French
resource guides
rare diseases
adenine phosphoribosyltransferase
adenine phosphoribosyltransferase deficiency
adenine phosphoribosyltransferase deficiency
signs and symptoms
urolithiasis
urolithiasis
scientific and technical information
---
https://www.jle.com/fr/revues/bio_rech/abc/e-docs/00/03/FE/FA/resume.md
France
French
English
journal article
table
guidelines
immunoassay
calibration
human growth hormone
human growth hormone
human growth hormone
---
https://wp.medicalistes.fr/acidemie-propionique/
false
false
France
French
Methylmalonyl-CoA decarboxylase
rare diseases
metabolic diseases
propionates
propionic acid
propionic acidemia
propionates
forum and mailing list for patients
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=432
France
French
rare diseases
hypogonadism
gonadotropins
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1044
France
French
adenosine triphosphatases
anemia
rare diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2088
France
French
glycogen storage disease
glucose transporter type 2
rare diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2170
France
French
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
homocystinuria
vitamin B 12
vitamin B 12
rare diseases
mecobalamin
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2169
France
French
scientific and technical information
vitamin B 12
homocystinuria
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
rare diseases
vitamin B 12
mecobalamin
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2587
France
French
peroxidase
rare diseases
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=268
France
French
muscle proteins
membrane proteins
muscular dystrophies, limb-girdle
rare diseases
DYSF protein, human
dysferlinopathy
limb-girdle muscular dystrophy, type 2B
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=267
France
French
muscular dystrophies, limb-girdle
rare diseases
calpain
limb-girdle muscular dystrophy type 2A
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=265
France
French
caveolin 3
muscular dystrophies, limb-girdle
rare diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=264
France
French
muscular dystrophies, limb-girdle
rare diseases
lamin type a
lamins
lamin C
limb-girdle muscular dystrophy, type 1B
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2785
2012
true
France
French
resource guides
rare diseases
carbonic anhydrase ii
osteopetrosis
osteopetrosis with renal tubular acidosis
acidosis, renal tubular
intellectual disability
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=299
France
French
scientific and technical information
phosphopyruvate hydratase
rare diseases
ENO1 protein, human
dna-binding proteins
phosphopyruvate hydratase
Biomarkers, Tumor
tumor suppressor proteins
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3057
France
French
scientific and technical information
rare diseases
signs and symptoms
rare diseases
monoamine oxidase
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=300
France
French
peroxisomal multifunctional Protein-2
scientific and technical information
Enoyl-CoA hydratase
rare diseases
3-Hydroxyacyl CoA dehydrogenases
isomerases
multienzyme complexes
hydro-lyases
17-Hydroxysteroid dehydrogenases
HSD17B4 protein, human
Enoyl-CoA hydratase
isomerases
3-Hydroxyacyl CoA dehydrogenases
multienzyme complexes
hydro-lyases
17-Hydroxysteroid dehydrogenases
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2971
France
French
rare diseases
Acyl-CoA oxidase
signs and symptoms
oxidoreductases
rare diseases
peroxisomal acyl-CoA oxidase
oxidoreductases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2967
France
French
scientific and technical information
rare diseases
transcobalamins
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2966
France
French
rare diseases
properdin
immunologic deficiency syndromes
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=29
France
French
mevalonic acid
rare diseases
signs and symptoms
phosphotransferases (Alcohol group acceptor)
mevalonate kinase deficiency
mevalonate kinase deficiency
mevalonate kinase
phosphotransferases (Alcohol group acceptor)
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3208
France
French
electron transport complex II
rare diseases
mitochondrial diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=320
France
French
rare diseases
11-beta-Hydroxysteroid dehydrogenase type 2
hypokalemia
mineralocorticoid excess syndrome, apparent
hypertension
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3196
France
French
rare diseases
tooth, supernumerary
lyngstadaas syndrome
3-hydroxysteroid dehydrogenases
metabolism, inborn errors
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=34520
France
French
rare diseases
muscular dystrophies
integrins
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=34515
France
French
rare diseases
muscle proteins
muscular dystrophies, limb-girdle
FKRP protein, human
proteins
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=266
France
French
rare diseases
muscular dystrophies, limb-girdle
cytoskeletal proteins
muscle proteins
muscular dystrophy, limb-girdle, type 1A
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35121
France
French
scientific and technical information
rare diseases
acid phosphatase
metabolism, inborn errors
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35120
France
French
rare diseases
5'-Nucleotidase
metabolism, inborn errors
anemia
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35656
France
French
rare diseases
coenzymes
ubiquinone
coenzyme Q10
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=43115
France
French
scientific and technical information
rare diseases
aconitate hydratase
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35708
France
French
rare diseases
Aromatic-L-Amino-Acid decarboxylases
dopa decarboxylase
aromatic amino acid decarboxylase deficiency
amino acid metabolism, inborn errors
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35705
France
French
scientific and technical information
amino acid metabolism, inborn errors
serine
rare diseases
transaminases
phosphoserine aminotransferase
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=408
France
French
rare diseases
glycerol kinase
glycerol
carbohydrate metabolism, inborn errors
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=38874
France
French
rare diseases
amidohydrolases
dihydropyrimidinase
amidohydrolases
dihydropyrimidine dehydrogenase deficiency
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=52901
France
French
rare diseases
follicle stimulating hormone, human
follicle-stimulating hormone deficiency, isolated
oligospermia
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=52503
France
French
popular works
rare diseases
membrane transport proteins
mental retardation, X-Linked
disabled persons
creatine transporter
creatine deficiency, X-linked
creatine
brain diseases, metabolic, inborn
plasma membrane neurotransmitter transport proteins
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=483
France
French
rare diseases
kininogen, high-molecular-weight
blood coagulation disorders
flaujeac factor deficiency
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=427
France
French
hypoaldosteronism
Cytochrome P-450 CYP11B2
rare diseases
corticosterone methyl oxidase I
corticosterone methyl oxidase II
Cytochrome P-450 CYP11B2
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=53690
France
French
scientific and technical information
metabolism, inborn errors
rare diseases
lactase
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=67041
France
French
rare diseases
mucopolysaccharidoses
hyaluronoglucosaminidase
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=65287
France
French
rare diseases
amidohydrolases
metabolism, inborn errors
beta-ureidopropionase
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=70594
France
French
rare diseases
alcohol oxidoreductases
metabolism, inborn errors
sepiapterin reductase
alcohol oxidoreductases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=67045
France
French
popular works
rare diseases
mental retardation, X-Linked
human growth hormone
disabled persons
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=71277
France
French
brain diseases
rare diseases
glucose transporter type 1
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=712
France
French
metabolism, inborn errors
rare diseases
glucose-6-phosphate isomerase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=711
France
French
rare diseases
phosphoglucomutase
metabolism, inborn errors
PGM1 protein, human
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=71526
France
French
rare diseases
pro-opiomelanocortin
obesity
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=714
France
French
metabolism, inborn errors
rare diseases
phosphoglycerate mutase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=749
France
French
prekallikrein
rare diseases
prekallikrein
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=324
http://www.orpha.net/data/patho/Pro/fr/Urgences_Fabry.pdf
2011
France
French
practice guideline
fabry disease
fabry disease
alpha-Galactosidase
rare diseases
fabry disease
signs and symptoms
fabry disease
emergency treatment
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=156
2011
true
France
French
carnitine O-Palmitoyltransferase
scientific and technical information
carnitine palmitoyl transferase 1A deficiency
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=332
2011
false
true
false
France
anemia, pernicious
child
scientific and technical information
intrinsic factor deficiency
intrinsic factor
---
https://www.sfpediatrie.com/sites/www.sfpediatrie.com/files/medias/documents/deficit_mcad_0.pdf
10.1016/j.arcped.2011.10.025
2011
false
true
false
France
guideline
medium chain acyl CoA dehydrogenase deficiency
Acyl-CoA dehydrogenase
lipid metabolism, inborn errors
lipid metabolism, inborn errors
lipid metabolism, inborn errors
lipid metabolism, inborn errors
lipid metabolism, inborn errors
lipid metabolism, inborn errors
lipid metabolism, inborn errors
lipid metabolism, inborn errors
lipid metabolism, inborn errors
---
http://www.has-sante.fr/portail/jcms/c_1069254/evaluation-de-lextension-du-depistage-neonatal-a-une-ou-plusieurs-erreurs-innees-du-metabolisme-par-spectrometrie-de-masse-en-tandem-1er-volet-deficit-en-mcad
http://www.has-sante.fr/portail/jcms/c_1069331/argumentaire-evaluation-a-priori-de-l-extension-du-depistage-neonatal-a-une-ou-plusieurs-erreurs-innees-du-metabolisme-par-la-technique-de-spectrometrie-de-masse-en-tandem-en-population-generale-1er-volet-depistage-du-deficit-en-mcad
2011
true
France
French
public health evaluation
health technology assessment
public health guidelines
economic evaluation
neonatal screening
infant, newborn
metabolism, inborn errors
mass spectrometry
europe
european union
united states
canada
australia
Acyl-CoA dehydrogenase
phenylketonurias
neonatal screening
neonatal screening
neonatal screening
neonatal screening
Cost-Benefit analysis
program evaluation
---
http://www.tousalecole.fr/content/d%C3%A9ficit-en-cr%C3%A9atine
2011
true
France
French
schools
child
popular works
creatine
Mainstreaming, Education
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2843
2011
false
France
French
resource guides
rare diseases
D-Xylulose reductase
pentoses
pentosuria
carbohydrate metabolism, inborn errors
xylulose
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79095
2011
false
true
false
France
bile acid synthesis defect, congenital, 4
cholestasis, intrahepatic
peroxisomal disorders
scientific and technical information
racemases and epimerases
---
https://sanp.ch/en/article/doi/sanp.2011.02219
2011
false
true
false
Switzerland
Glut1 Deficiency Syndrome
carbohydrate metabolism, inborn errors
carbohydrate metabolism, inborn errors
carbohydrate metabolism, inborn errors
carbohydrate metabolism, inborn errors
carbohydrate metabolism, inborn errors
journal article
glucose transporter type 1
monosaccharide transport proteins
---
https://medicalforum.ch/fr/detail/doi/fms.2011.07714
2011
false
true
false
Switzerland
aged
men
testosterone
journal article
androgens
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79233
2010
false
true
false
France
gout, HPRT-Related
hypoxanthine phosphoribosyltransferase
scientific and technical information
gout
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=157
2010
France
French
resource guides
carnitine O-Palmitoyltransferase
signs and symptoms
rare diseases
scientific and technical information
carnitine palmitoyl transferase 2 deficiency
carnitine palmitoyl transferase 2 deficiency
metabolism, inborn errors
metabolism, inborn errors
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=366
2009
true
France
French
glycogen debranching enzyme system
glycogen storage disease type iii
scientific and technical information
---
https://www.revmed.ch/RMS/2009/RMS-224/Diagnostic-et-traitement-de-la-carence-en-fer-sans-anemie
2009
Switzerland
French
iron
iron metabolism disorders
iron metabolism disorders
journal article
---
https://medicalforum.ch/fr/detail/doi/fms.2009.06798/
2009
false
Switzerland
French
iron
iron metabolism disorders
iron metabolism disorders
journal article
---
http://campus.cerimes.fr/endocrinologie/enseignement/item552/site/html/
2009
true
France
French
endocrinology
aged
androgens
andropause
French pre-residency program examination
educational course
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=369
2009
true
France
French
glycogen phosphorylase, liver form
glycogen storage disease type vi
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2089
2009
true
France
French
glycogen synthase
glycogen storage disease
rare diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=371
2009
true
France
French
Phosphofructokinase-1, muscle type
glycogen storage disease type vii
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=368
2009
true
France
French
glycogen phosphorylase, muscle form
glycogen storage disease type v
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=91131
2007
France
French
congenital disorders of glycosylation
phosphotransferases (Alcohol group acceptor)
dolichol phosphates
rare diseases
scientific and technical information
---
http://revmed.ch/RMS/2007/RMS-104/32157
2007
Switzerland
French
Adrenocortical steroid therapy
corticosteroid therapy
administration, cutaneous
testosterone
sexual dysfunctions, psychological
androgens
androgens
dehydroepiandrosterone
androgens
androgens
journal article
---
http://www.orpha.net/consor/cgi-bin/Disease_Emergency.php?lng=FR&stapage=FICHE_URGENCE_H1
https://www.orpha.net/data/patho/Pro/fr/Urgences_HomocystinurieClassique-frPro173.pdf
2007
true
false
France
French
homocystinuria
emergency treatment
thromboembolism
homocystinuria
anesthesia
cystathionine beta-Synthase
practice guideline
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1361
2006
true
France
French
carnosine
aminoacyl-histidine dipeptidase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2168
2006
France
French
rare diseases
dipeptidases
aminoacyl-histidine dipeptidase
homocarnosinosis
amino acid metabolism, inborn errors
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=255
2006
France
French
dystonia
dystonia
signs and symptoms
rare diseases
tyrosine 3-Monooxygenase
dystonia, dopa-responsive
segawa syndrome, autosomal recessive
dystonic disorders
dystonic disorders
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=355
http://www.orpha.net/data/patho/FR/fr-gaucher.pdf
2006
France
French
gaucher disease
gaucher disease
rare diseases
child
adult
diagnosis, differential
gaucher disease
prenatal diagnosis
gaucher disease
genetic therapy
glucosylceramidase
signs and symptoms
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=22
2006
France
French
hydroxybutyrates
succinate-semialdehyde dehydrogenase
4-hydroxybutyric acid
rare diseases
succinic semialdehyde dehydrogenase deficiency
amino acid metabolism, inborn errors
hydroxybutyrates
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=742
2006
France
French
dipeptidases
signs and symptoms
rare diseases
dipeptides
proline dipeptidase
prolidase deficiency
prolidase deficiency
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35706
2006
France
English
French
glutarates
rare diseases
peroxisomal disorders
oxidoreductases
glutaryl coenzyme A oxidase
glutaric acid
oxidoreductases
glutarates
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=69076
2006
France
French
rare diseases
Sodium-Glucose transporter 2
glycosuria, renal
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35710
2006
France
French
glucose
rare diseases
Sodium-Glucose transporter 1
galactose
carbohydrate metabolism, inborn errors
malabsorption syndromes
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2056
2006
France
French
fructokinases
fructose
rare diseases
fructokinase
ketohexokinase
fructosuria
fructose metabolism, inborn errors
fructokinases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79157
2006
France
French
oxidoreductases acting on CH-CH group donors
butyrates
rare diseases
amino acid metabolism, inborn errors
developmental disabilities
2-methylbutanoic acid
2-methylacyl-CoA dehydrogenase
oxidoreductases acting on CH-CH group donors
butyrates
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2066
2006
France
French
4-Aminobutyrate transaminase
rare diseases
gamma aminobutyric acid transaminase deficiency
amino acid metabolism, inborn errors
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3129
2006
France
French
sarcosine
sarcosine dehydrogenase
rare diseases
SARDH protein, human
sarcosinemia
amino acid metabolism, inborn errors
mitochondrial diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35704
2006
France
French
rare diseases
amidinotransferases
metabolism, inborn errors
glycine amidinotransferase
amidinotransferases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=51208
2006
France
French
rare diseases
glutamate formimidoyltransferase
metabolic diseases
formiminoglutamic acid
glutamate formiminotransferase deficiency
metabolism, inborn errors
hyperhomocysteinemia
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2981
2006
France
French
signs and symptoms
rare diseases
Acetyl-CoA C-Acyltransferase
Pseudo-Zellweger syndrome
zellweger syndrome
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=419
2006
France
French
rare diseases
proline
metabolic diseases
proline oxidase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=132
2006
France
French
butyrylcholinesterase
rare diseases
butyrylcholinesterase deficiency
butyrylcholinesterase deficiency
signs and symptoms
metabolism, inborn errors
metabolism, inborn errors
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=943
2006
France
French
rare diseases
carboxy-lyases
malonates
malonyl-CoA decarboxylase
malonic acid
malonic aciduria
metabolism, inborn errors
methylmalonic acid
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=926
2006
France
French
catalase
rare diseases
acatalasia
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=30
2006
France
French
purine-pyrimidine metabolism, inborn errors
Orotidine-5'-Phosphate decarboxylase
rare diseases
multienzyme complexes
orotic acid
orotate phosphoribosyltransferase
uridine 5'-monophosphate synthase
oroticaciduria 1
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=941
2006
France
French
phosphotransferases (Alcohol group acceptor)
glyceric acids
rare diseases
glycerate kinase
glyceric acid
D-glycericacidemia
carbohydrate metabolism, inborn errors
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=212
2006
France
French
rare diseases
cystathionine gamma-lyase
cystathionine
gamma-cystathionase deficiency
hyperhomocysteinemia
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=230
2006
France
French
rare diseases
dopamine beta-hydroxylase
norepinephrine
dopamine beta hydroxylase deficiency
autonomic nervous system diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2880
2006
France
French
phosphoenolpyruvate carboxykinase (gtp)
rare diseases
phosphoenolpyruvate carboxykinase deficiency
liver diseases
metabolism, inborn errors
pyruvate dehydrogenase complex deficiency disease
phosphoenolpyruvate carboxykinase (atp)
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=70592
2006
France
French
immunologic deficiency syndromes
Interleukin-1 Receptor-Associated kinases
rare diseases
IRAK4 protein, human
Interleukin-1 Receptor-Associated kinases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3124
2006
France
French
lysine
lysine
rare diseases
saccharopine dehydrogenases
saccharopine
hyperlysinemias
saccharopinuria
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=83639
2006
France
French
thrombophilia
glycosylphosphatidylinositols
rare diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1578
2005
true
France
French
pterin-4a-carbinolamine dehydratase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3137
2005
false
France
French
alpha-n-acetylgalactosaminidase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=361
2005
true
France
French
glucocorticoids
scientific and technical information
---
http://revmed.ch/RMS/2005/RMS-6/30125
2005
Switzerland
French
growth hormone
growth disorders
growth disorders
child
adolescent
adult
journal article
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=465
2005
true
France
French
plasminogen activator inhibitor 1
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35701
2005
true
France
French
hydroxymethylglutaryl CoA reductases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=752
2005
France
French
signs and symptoms
rare diseases
17-Hydroxysteroid dehydrogenases
17beta-hydroxysteroid dehydrogenase type 3
Disorder of Sex Development, 46,XY
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=35078
2005
France
French
severe combined immunodeficiency
janus kinase 3
rare diseases
JAK3 protein, human
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=911
2005
France
French
rare diseases
ZAP-70 protein-tyrosine kinase
severe combined immunodeficiency
ZAP70 protein, human
ZAP70 deficiency
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=226
2005
true
France
French
scientific and technical information
dihydropteridine reductase
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1173
2004
false
true
false
France
scientific and technical information
cerebellar ataxia
gonadotropin-releasing hormone
hypogonadism
cerebellar ataxia and hypogonadotropic hypogonadism
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=134
2004
false
France
French
Acetyl-CoA C-Acetyltransferase
child
rare diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=760
2004
false
France
French
Purine-Nucleoside phosphorylase
scientific and technical information
resource guides
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=5
2004
false
France
French
3-Hydroxyacyl-CoA dehydrogenase
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=158
2004
false
France
French
scientific and technical information
carnitine
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=26793
2004
true
France
French
Acyl-CoA dehydrogenase, Long-Chain
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=159
2004
true
France
French
carnitine acyltransferases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=46
2004
France
French
scientific and technical information
resource guides
adenylosuccinate lyase
adenylosuccinate lyase deficiency
rare diseases
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=91
2004
false
France
French
aromatase
aromatase deficiency
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=219
2004
France
French
muscular dystrophies, limb-girdle
rare diseases
sarcoglycans
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=353
2004
France
French
rare diseases
sarcoglycans
limb-girdle muscular dystrophy, type 2C
sarcoglycanopathies
gamma-Sarcoglycan
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=62
2004
France
French
rare diseases
sarcoglycans
sarcoglycanopathies
alpha-Sarcoglycan
Alpha-Sarcoglycanopathies
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=119
2004
France
French
rare diseases
muscular dystrophies, limb-girdle
sarcoglycans
beta-sarcoglycanopathy
sarcoglycanopathies
limb-girdle muscular dystrophy, type 2E
beta-Sarcoglycan
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=219
2004
France
French
scientific and technical information
resource guides
sarcoglycanopathies
sarcoglycans
limb-girdle muscular dystrophy type 2F
rare diseases
delta-Sarcoglycan
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=36355
2003
true
France
French
receptors, purinergic P2
rare diseases
scientific and technical information
---
http://medecinetropicale.free.fr/cours/goitre_endemique_carence_en_iode.pdf
2003
France
French
tropical medicine
goiter, endemic
goiter, endemic
severity of illness index
child
prevalence
goiter, endemic
developing countries
goiter, endemic
goiter, endemic
iodine
educational course
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=25
2003
false
France
French
Glutaryl-CoA dehydrogenase
rare diseases
glutarates
amino acid metabolism, inborn errors
Glutaric Acidemia I
brain diseases, metabolic
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=859
2003
true
France
French
English
transcobalamins
rare diseases
scientific and technical information
---
http://www.snof.org/maladies/tay.html
2002
France
French
tay-sachs disease
child
jews
hexosaminidase A
popular works
angiography
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2609
2002
true
France
French
ubiquinone
rare diseases
electron transport complex I
scientific and technical information
---
https://iris.who.int/discover?query=Progres%20en%20vue%20de%20l%27elimination%20des%20troubles%20dus%20a%20la%20carence%20iodee%20(TDCI)
1999
Switzerland
French
iodine
sodium iodide
international agencies
sodium iodide
treatment outcome
congenital hypothyroidism
goiter, endemic
africa
americas
asia
deficiency diseases
technical report
---
