" /> renal aminoacidurias - CISMeF





Preferred Label : renal aminoacidurias;

MeSH definition : A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.;

MeSH synonym : renal aminoaciduria; aminoaciduria, renal; aminoacidurias, renal;

MeSH annotation : coordinate IM with specific amino acid /urine (IM);

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A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.

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14/05/2024


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