Literature DB >> 4681895

Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.

A G Campbell, L E Rosenberg, P J Snodgrass, C T Nuzum.   

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Year:  1973        PMID： 4681895     DOI： 10.1056/NEJM197301042880101

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  23 in total

1.  Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

Authors:  R P Carstens; W A Fenton; L R Rosenberg
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Late-onset form of partial N-acetylglutamate synthetase deficiency.

Authors:  O N Elpeleg; J P Colombo; N Amir; C Bachmann; H Hurvitz
Journal:  Eur J Pediatr       Date:  1990-06       Impact factor: 3.183

3.  X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Authors:  F C Ricciuti; T D Gelehrter; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

4.  Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.

Authors:  R DeMars; S L LeVan; B L Trend; L B Russell
Journal:  Proc Natl Acad Sci U S A       Date:  1976-05       Impact factor: 11.205

5.  Hyperammonemia through deficiency of ornithine carbamyl transferase.

Authors:  J P Farriaux; J L Dhondt; L Cathelineau; J Ratel; G Fontaine
Journal:  Z Kinderheilkd       Date:  1974

6.  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

7.  1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

Authors:  A L Gropman; S T Fricke; R R Seltzer; A Hailu; A Adeyemo; A Sawyer; J van Meter; W D Gaillard; R McCarter; M Tuchman; M Batshaw
Journal:  Mol Genet Metab       Date:  2008-07-26       Impact factor: 4.797

8.  Neuropathology of ornithine carbamyl transferase deficiency.

Authors:  M Kornfeld; B M Woodfin; L Papile; L E Davis; L R Bernard
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

9.  In vitro synthesis of a putative precursor of mitochondrial ornithine transcarbamoylase.

Authors:  J G Conboy; F Kalousek; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1979-11       Impact factor: 11.205

10.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
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