[Argininosuccinic aciduria disease of the newborn with lethal course].

No abstract is available for this paper.

• Publication year

  1968

• Venue

  Helvetica paediatrica acta

• Publication date

  1968-02-01

• Fields of study

  Medicine

• Identifiers
  PMID 5688329
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Arginosuccine aciduria.

  1967cited by this paper
• SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM: CASE OF HOMOCYSTINURIA.

  1965cited by this paper
• HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

  1965cited by this paper
• Aminogenic alopecia. Loss of hair associated with argininosuccinic aciduria.

  1965cited by this paper
• [On prolonged diet-therapy of an infant with urinary valine and leucine disorders associated with mental retardation (maple syrup urine disease)].

  1965cited by this paper
• [ARGININE SUCCINIC ACID DISEASE].

  1965cited by this paper
• [MAPLE SYRUP DISEASE WITH FAMILIAL INCIDENCE].

  1964cited by this paper
• AN OCCURRENCE OF ARGININOSUCCINIC ACIDURIA.

  1964cited by this paper
• ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS.

  1964cited by this paper
• PLASMA AMINO ACIDS AFTER BIRTH.

  1964cited by this paper
• Pathological findings in homocystinuria

  1964cited by this paper
• AMINO ACID EXCRETION OF NEWBORN INFANTS DURING THE FIRST TWENTY-FOUR HOURS OF LIFE.

  1964cited by this paper
• A familial study of a human enzyme defect, argininosuccinic aciduria.

  1964cited by this paper
• A FAMILY AFFECTED BY ARGININO-SUCCINIC ACIDURIA.

  1963cited by this paper
• Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

  1962cited by this paper
• Maple syrup urine disease.

  1961cited by this paper
• Determination of Argininosuccinic Acid by Ion-Exchange Chromatography

  1961cited by this paper
• Neuropathological observations in maple syrup urine disease: branched-chain ketoaciduria.

  1961cited by this paper
• Argininosuccinic Aciduria

  1961cited by this paper
• Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies.

  1960cited by this paper
• Renal clearances of amino acids in normal adults and in patients with aminoaciduria.

  1960cited by this paper
• A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

  1958cited by this paper
• The urinary excretion of amino acids and sugars in early infancy.

  1957cited by this paper
• The amino acids and other ampholytes of urine. 3. Unidentified substances excreted in normal human urine.

  1955cited by this paper
• The prevention of ammonia toxicity by L-arginine and related compounds.

  1955cited by this paper
• The free amino acids of human blood plasma.

  1954cited by this paper
• [Colorimetric determination of amino-aciduria].

  1953cited by this paper
• Biosynthesis of urea. V. Isolation and properties of argininosuccinic acid.

  1953cited by this paper
• [Determination of total aminoacids of the blood after peroral administration of protein hydrolysate (nesmida Nestlé)].

  1951cited by this paper

• The pathological findings in a case of argininosuccinic aciduria.

  2010cites this paper
• CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase

  2004cites this paper
• Liver fibrosis in carbamoylphosphate synthetase deficiency.

  1987cites this paper
• Disorders of the Metabolism of Amino Acids and Related Compounds

  1986cites this paper
• Severe liver fibrosis in argininosuccinic aciduria.

  1986cites this paper
• Antenatal diagnosis of defects of ureagenesis.

  1981cites this paper
• [Arginino succinic uria. A patient with neonatal form lived as long as 11 months (author's transl)].

  1981cites this paper
• Newborn screening of urea cycle disorders.

  1981cites this paper
• Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria.

  1981cites this paper
• Carrier detection of urea cycle disorders.

  1981cites this paper
• New approaches to the diagnosis and treatment of inborn errors or urea synthesis.

  1981cites this paper
• Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.

  1979cites this paper
• Enzymologic and Metabolic Studies in Two Families Affected by Argininosuccinic Aciduria

  1978cites this paper
• Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.

  1976cites this paper
• [Hereditary diseases related to a disorder of the enzymatic activity of the urea formation cycle].

  1976cites this paper
• Infantile diffuse cerebral degeneration with hepatic cirrhosis.

  1976cites this paper
• [Argininosuccinic acid, technics of biochemical study (apropos of a case of argininosuccinyluria)].

  1975cites this paper
• Familial hyperargininaemia.

  1975cites this paper
• [Severe metabolic diseases in neonates. Diagnosis and treatment (author's transl)].

  1975cites this paper
• Liver morphology in a case of citrullinemia (a light and electron microscopic study).

  1974cites this paper
• Inherited hyperammonemic syndromes.

  1974cites this paper
• [Letter: Survival to the age of 3 months of an infant with neonatal arginino-succinyluria].

  1974cites this paper
• Lethal neonatal deficiency of carbamyl phosphate synthetase.

  1974cites this paper
• Enzymes of arginine and urea synthesis.

  1973cites this paper
• Urinary excretion of argininosuccinic acid.

  1973cites this paper
• Ornithine transcarbamylase deficiency in the newborn infant.

  1973cites this paper
• Variants of citrullinaemia.

  1973cites this paper
• [The inborn errors of metabolism of amino acids].

  1973cites this paper
• [Diagnostic methods for the detection of amino acid metabolism disorders].

  1973cites this paper
• Argininosuccinic aciduria.

  1973cites this paper
• [Hereditary ornithine-carbamyl-transferase deficiency with qualitative enzyme abnormality. Report of a form with neonatal revelation and fatal course in a boy].

  1973cites this paper
• Central nervous system lesions in disorders of amino-acid metabolism. A neuropathological study.

  1972cites this paper
• Early dietary management in an infant with argininosuccinase deficiency: preliminary report.

  1972cites this paper
• Citrullinaemia with Rapidly Fatal Neonatal Course

  1971cites this paper
• [Non-ketotic hyperglycinemia: peracute course in neonatal period].

  1971cites this paper
• Congenital disorders of the urea cycle and ammonia detoxication.

  1971cites this paper
• Argininosuccinic aciduria. Case report with neuropathological findings.

  1970cites this paper
• [Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies].

  1970cites this paper
• Nonketotic hyperglycinemia.

  1969cites this paper
• Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations.

  1969cites this paper
• Deficient argininosuccinase activity in brain in argininosuccinicaciduria.

  1968cites this paper