Literature DB >> 4117228

X-linked transmission of ornithine-transcarbamylase deficiency.

C R Scott, C C Teng, S I Goodman, A Greensher, J W Mace.   

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Year:  1972        PMID： 4117228     DOI： 10.1016/s0140-6736(72)92756-0

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  8 in total

1.  Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.

Authors:  Carlos J Perez; Jean Jaubert; Jean-Louis Guénet; Kirstin F Barnhart; Catherine M Ross-Inta; Vicente C Quintanilla; Isabelle Aubin; Jimi L Brandon; Nancy W Otto; John DiGiovanni; Irma Gimenez-Conti; Cecilia Giulivi; Donna F Kusewitt; Claudio J Conti; Fernando Benavides
Journal:  Am J Pathol       Date:  2010-08-19       Impact factor: 4.307

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.  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

4.  Studies of X-chromosome inactivation with an improved histochemical technique for ornithine carbamoyltransferase.

Authors:  K A Wareham; S Howell; D Williams; E D Williams
Journal:  Histochem J       Date:  1983-04

5.  Unmet Needs of Parents of Children with Urea Cycle Disorders.

Authors:  Mara Scharping; Heiko Brennenstuhl; Sven F Garbade; Beate Wild; Roland Posset; Matthias Zielonka; Stefan Kölker; Markus W Haun; Thomas Opladen
Journal:  Children (Basel)       Date:  2022-05-12

6.  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

7.  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

8.  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
  8 in total

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