Literature DB >> 650350

Carrier detection in ornithine transcarbamylase deficiency.

J T Hokanson, W E O'Brien, J Idemoto, I A Schafer.   

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Year:  1978        PMID： 650350     DOI： 10.1016/s0022-3476(78)80606-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  13 in total

1.  Glutamine-valine index - An aid in the detection of urea-cycle disorders.

Authors:  A Briddon; V G Oberholzer
Journal:  Amino Acids       Date:  1991-06       Impact factor: 3.520

2.  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

3.  Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of age.

Authors:  M Candito; C Vianey-Saban; J P Ferraci; B Bébin; J P Chazalette; F Sebag; M Mathieu; P Chambon
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  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

5.  New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

Authors:  R L Nussbaum; B A Boggs; A L Beaudet; S Doyle; J L Potter; W E O'Brien
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

6.  Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Authors:  A Pelet; A Rotig; C Bonaïti-Pellié; D Rabier; V Cormier; E Toumas; D Hentzen; J M Saudubray; A Munnich
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

7.  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

8.  Urinary pyrimidine excretion in arginase deficiency.

Authors:  E W Naylor; S D Cederbaum
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

9.  Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.

Authors:  D M Becroft; D M Barry; D R Webster; H A Simmonds
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

10.  Allopurinol challenge test in children.

Authors:  A B Burlina; V Ferrari; C Dionisi-Vici; A Bordugo; F Zacchello; M Tuchman
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
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