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familial cystinuria-lysinuric
RESULTS: Twelve children present recurrent urinary infections. In five children bladder stones were formed (among them a case of familial cystinuria-lysinuria).
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Cystinuria and lysinuric protein intolerance are inherited aminoacidurias caused by defective amino-acid transport activities linked to a family of heteromeric ...
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Cystinuria-lysinuria associated with mental retardation and morphological and neurological ... a metabolic disorder confirmed in close members of the family.
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In contrast, those responsible for isolated cystinuria, autosomal dominant hyperdibasic aminoaciduria type I, isolated lysinuria, renal familial iminoglycinuria, ...
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Chapter 192: Lysinuric Protein Intolerance and Other Cationic Aminoacidurias ... arginine, and ornithine is abnormal in four disease entities: classic cystinuria; lysinuric protein intolerance (hyperdibasic aminoaciduria type 2, or familial protein ...
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Lysinuric protein intolerance - Wikipedia, the free encyclopedia
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nematode members, the family of glycoprotein-asso- ciated amino acid transporters (gpaAT family). Key words: Cystinuria — Lysinuric protein intolerance ...
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in the courseof family studies, have remained asymp- tomatic. The natural history of classiccystinuria and clinical follow-up in 35 of these patients will be de- ...
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familial - autosomal recessive. chrom.#: 2p; gene: ... for Amino Acids. cystinuria, lysinuria, argininuria, ornithinuria; paper chromatography or electrophoresis ...
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plasma ornithine, massive lysinuria and cystinuria was ... Her family history revealed that her parents ... with hyperornithinemia, cystinuria and lysinuria. A ...
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Did you mean:
familial cystinuria-lysinuric
