Literature DB >> 5356974

Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.

F A Hommes, C J De Groot, C W Wilmink, J H Jonxis.   

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Year:  1969        PMID： 5356974      PMCID： PMC2020356          DOI： 10.1136/adc.44.238.688

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  16 in total

1.  A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

Authors:  J D ALLAN; D C CUSWORTH; C E DENT; V K WILSON
Journal:  Lancet       Date:  1958-01-25       Impact factor: 79.321

2.  The free amino acids of human blood plasma.

Authors:  W H STEIN; S MOORE
Journal:  J Biol Chem       Date:  1954-12       Impact factor: 5.157

3.  A modified ninhydrin reagent for the photometric determination of amino acids and related compounds.

Authors:  S MOORE; W H STEIN
Journal:  J Biol Chem       Date:  1954-12       Impact factor: 5.157

4.  Development of urea-synthesizing enzymes in human liver.

Authors:  N C Räihä; J Suihkonen
Journal:  Acta Paediatr Scand       Date:  1968-03

5.  Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.

Authors:  B Levin; J M Abraham; V G Oberholzer; E A Burgess
Journal:  Arch Dis Child       Date:  1969-04       Impact factor: 3.791

6.  Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.

Authors:  B Levin; R H Dobbs; E A Burgess; T Palmer
Journal:  Arch Dis Child       Date:  1969-04       Impact factor: 3.791

7.  Stimulation of insulin secretion by amino acids.

Authors:  J C Floyd; S S Fajans; J W Conn; R F Knopf; J Rull
Journal:  J Clin Invest       Date:  1966-09       Impact factor: 14.808

8.  Synthesis of urea-cycle intermediates from citrulline in brain.

Authors:  J W Kemp; D M Woodbury
Journal:  Biochim Biophys Acta       Date:  1965-11-15

9.  Treatment of hyperammonemia.

Authors:  B Levin; A Russell
Journal:  Am J Dis Child       Date:  1967-01
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  7 in total

1.  Kinetic abnormalities of carbamyl phosphate synthetase-I in a case of congenital hyperammonaemia.

Authors:  I A Qureshi; J Letarte; R Ouellet; B Lemieux; L Cathelineau
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.

Authors:  S Mantagos; S Tsagaraki; E A Burgess; V Oberholzer; T Palmer; J Sacks; S Baibas; T Valaes
Journal:  Arch Dis Child       Date:  1978-03       Impact factor: 3.791

3.  Neuropathological observations in a patient with carbamylphosphate-synthetase deficiency and in two sibs.

Authors:  E J Ebels
Journal:  Arch Dis Child       Date:  1972-02       Impact factor: 3.791

4.  Disorders of amino acid metabolism--1971.

Authors:  J H Menkes
Journal:  Calif Med       Date:  1971-10

5.  Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.

Authors:  J Jaeken; H Devlieger; C Bachmann; J Van Aerde; L Corbeel; E Eggermont
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

6.  Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.

Authors:  J W McReynolds; B Crowley; M J Mahoney; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025

7.  Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.

Authors:  A Zimmermann; C Bachmann; G Schubiger
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1985
  7 in total

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