Literature DB >> 5471650

Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.

J M Freeman, J F Nicholson, R T Schimke, L P Rowland, S Carter.   

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Year:  1970        PMID： 5471650     DOI： 10.1001/archneur.1970.00480290050006

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  10 in total

1.  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

2.  Phenotypic diversity of human diseases resulting from allelic series.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

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.  Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families.

Authors:  T Palmer; V G Oberholzer; E A Burgess; L J Butler; B Levin
Journal:  Arch Dis Child       Date:  1974-06       Impact factor: 3.791

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.  Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects.

Authors:  L Corbeel; K Tada; J P Colombo; R Eeckels; E Eggermont; J Jaeken; W Den Tandt; L Harvengt; J Delhaye; W Deloecker
Journal:  Arch Dis Child       Date:  1975-02       Impact factor: 3.791

7.  Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.

Authors:  N J Hoogenraad; J D Mitchell; N A Don; T M Sutherland; A C Mc Leay
Journal:  Arch Dis Child       Date:  1980-04       Impact factor: 3.791

8.  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

9.  Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.

Authors:  Qiong Jia; Yi Han; Pin Huang; Nicholas C Woodward; Janet Gukasyan; Johannes Kettunen; Mika Ala-Korpela; Olga Anufrieva; Qin Wang; Markus Perola; Olli Raitakari; Terho Lehtimäki; Jorma Viikari; Marjo-Riitta Järvelin; Michael Boehnke; Markku Laakso; Karen L Mohlke; Oliver Fiehn; Zeneng Wang; W H Wilson Tang; Stanley L Hazen; Jaana A Hartiala; Hooman Allayee
Journal:  J Am Heart Assoc       Date:  2019-05-21       Impact factor: 5.501

10.  Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease.

Authors:  Jaana A Hartiala; W H Wilson Tang; Zeneng Wang; Amanda L Crow; Alexandre F R Stewart; Robert Roberts; Ruth McPherson; Jeanette Erdmann; Christina Willenborg; Stanley L Hazen; Hooman Allayee
Journal:  Nat Commun       Date:  2016-01-29       Impact factor: 14.919
  10 in total

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