HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE".
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Adolescent↗
Biomedical subjects
M L EFRON
Publications and source records attributed to M L EFRON.
FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT.
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1-Pyrroline-5-Carboxylate Dehydrogenase↗
AMINOACIDURIA.
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Amino Acid Metabolism, Inborn Errors↗
AMINOACIDURIA.
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Amino Acid Metabolism, Inborn Errors↗
PHENYLKETONURIC FAMILIES.
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Blood Chemical Analysis↗
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.
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Amino Acid Metabolism, Inborn Errors↗
RENAL TUBULAR TRANSPORT OF PROLINE, HYDROXYPROLINE, AND GLYCINE IN HEALTH AND IN FAMILIAL HYPERPROLINEMIA.
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1-Pyrroline-5-Carboxylate Dehydrogenase↗
THE METABOLIC DEFECT OF PRIMARY HYPEROXALURIA.
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Amino Acid Metabolism, Inborn Errors↗
CONTRIBUTIONS OF A CLINICAL GENETICS LABORATORY TO THE DIAGNOSIS AND TREATMENT OF DISEASE IN CHILDHOOD.
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Child↗
Atypical variants of the 'ataxia telangiectasia' syndrome. Report of two cases, including one with apparent dominant inheritance.
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Ataxia Telangiectasia↗
New renal tubular amino-acid transport system and a new hereditary disorder of amino-acid metabolism.
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Amino Acids↗
Chemical studies of several varieties of Hb M.
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Hemoglobins↗
Two-way separation of amino acids and other ninhydrin-reacting substances by high-voltage electrophoresis followed by paper chromatography.
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Amino Acids↗