A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.
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- Type
- article
- Published
- 1958-01-25
- Cited by
- 186
- References
- 12
- OpenAlex
- https://openalex.org/W1964338154
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:1615277
Keywords
Abnormality, Disease, Medicine, Internal medicine, Endocrinology
References
- Wilson's disease; an inborn error of metabolism with multiple manifestations.
- Procedures for the chromatographic determination of amino acids on four per cent cross-linked sulfonated polystyrene resins.
- The excretion of amino acids by the human; a quantitative study with ion-exchange chromatography.
- Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.
- The amino acids and other ampholytes of urine. 3. Unidentified substances excreted in normal human urine.
- Fate of porphobilinogen in the rat: relation to acute porphyria in man.
- Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features.
- Sporadic or non-endemic familial cretinism with goiter.
- A clinical, physiologic and biochemical study of patients with malignant carcinoid (argentaffinoma).
- Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität.
- Studies on alcaptonuria: 2. Investigations on a case of human alcaptonuria.
- Recent Advances in Clinical Pathology.
- Recent advances in clinical pathology.
Cited by
- Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.
- First case of argininosuccinic aciduria in Japan: clinical observations and treatment.
- Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.
- Application of electrospray tandem mass spectrometry to neonatal screening.
- Isolation of argininosuccinase from bovine brain: catalytic, physical and chemical properties compared to liver and kidney enzymes.
- Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.
- Sibling cases of chronic recurrent hepatocerebral disease with hypercitrullinemia
- Argininosuccinic aciduria: Report of two new cases and demonstration of intermittent elevation of blood ammonia
- 先天性高アンモニア血症の1例Carbamyl phosphate synthetase低下を伴えるOrnithine transcarbamylase欠損症
- ALTERATION AND PATHOLOGY OF CEREBRAL PROTEIN METABOLISM.
- Argininosuccinic Aciduria. A New Form of Mental Deficiency Due to Metabolic Causes
- Urea cycle disorders revisited – clinical, biochemical and therapeutical aspects
- Aspects of amino acid metabolism in phenylketonuria and other amino acidopathies.
- Enzymes of arginine and urea synthesis.
- Familial growth retardation, renal aminoaciduria and cor pulmonale. I. Description of a new syndrome, with case reports.
- DISTURBANCES OF AMINO ACID METABOLISM IN NEUROLOGIC DISORDERS
- Current role of enzyme analysis for urea cycle disorders
- Hereditary metabolic disorders of the urea cycle.
- Amino-aciduria and mental retardation.
- Determination of arginnosuccinate in normal blood serum and liver.
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