Literature DB >> 4809308

Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.

A S Goldstein, N J Hoogenraad, J D Johnson, K Fukanaga, E Swierczewski, H M Cann, P Sunshine.   

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Year:  1974        PMID: 4809308     DOI: 10.1203/00006450-197401000-00002

Source DB:  PubMed          Journal:  Pediatr Res        ISSN: 0031-3998            Impact factor:   3.756


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  19 in total

1.  Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.

Authors:  M E Pembrey; J M Old; J V Leonard; C H Rodeck; R Warren; K E Davies
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

2.  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

3.  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

4.  Protein load in argininosuccinic aciduria: thoughts on its biochemical implications.

Authors:  H Böhles; D Harms; H Heid; F C Sitzmann; W Fekl
Journal:  Z Ernahrungswiss       Date:  1978-06

5.  DNA analysis of ornithine transcarbamylase deficiency.

Authors:  U Wendel; E Wilichowski; J Schmidtke; C Bachmann
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

6.  Carrier detection in ornithine transcarbamylase deficiency.

Authors:  E A Haan; D M Danks; A Grimes; N J Hoogenraad
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

7.  Homocitrullinuria and homoargininuria in lysinuric protein intolerance.

Authors:  T Kato; M Sano; N Mizutani
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

8.  A new French-Canadian family affected by hyperargininaemia.

Authors:  I A Qureshi; J Letarte; R Ouellet; J Larochelle; B Lemieux
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

9.  Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.

Authors:  W Holzgreve; M S Golbus
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

10.  Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.

Authors:  C van der Heiden; H D Bakker; J Desplanque; M Brink; P K de Bree; S K Wadman
Journal:  Eur J Pediatr       Date:  1978-07-19       Impact factor: 3.183

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