Literature DB >> 3123791

Lethal ornithine transcarbamylase deficiency in a female neonate.

N Girgis1, V McGravey, B L Shah, J Herrin, V E Shih.   

Abstract

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Year:  1987        PMID： 3123791     DOI： 10.1007/bf01800079

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  New approaches to the diagnosis and treatment of inborn errors or urea synthesis.

Authors:  M L Batshaw; G H Thomas; S W Brusilow
Journal:  Pediatrics       Date:  1981-08       Impact factor: 7.124

2.  Ornithine transcarbamylase deficiency: enzyme studies on a further case and a method of diagnosis using plasma enzyme ratios.

Authors:  R G Gray; J A Black; V H Lyons; R J Pollitt
Journal:  Pediatr Res       Date:  1976-11       Impact factor: 3.756

3.  Neonatal citrullinemia associated with cutaneous manifestations and arginine deficiency.

Authors:  O M Goldblum; S W Brusilow; Y A Maldonado; E R Farmer
Journal:  J Am Acad Dermatol       Date:  1986-02       Impact factor: 11.527
  3 in total
  5 in total

1.  Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Authors:  Jin-Ho Choi; Beom Hee Lee; Ja Hye Kim; Gu-Hwan Kim; Yoo-Mi Kim; Jahyang Cho; Chong-Kun Cheon; Jung Min Ko; Jung Hyun Lee; Han-Wook Yoo
Journal:  J Hum Genet       Date:  2015-09       Impact factor: 3.172

2.  Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Authors:  M Grompe; C T Caskey; R G Fenwick
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

3.  Altered enzyme activities and citrulline synthesis in liver mitochondria from ornithine carbamoyltransferase-deficient sparse-furash mice.

Authors:  N S Cohen; C W Cheung; L Raijman
Journal:  Biochem J       Date:  1989-01-01       Impact factor: 3.857

4.  Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.

Authors:  R Slomski; I Braulke; C Behrend; E Schröder; J P Colombo; J Reiss
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

5.  Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.

Authors:  Tomoko Lee; Maiko Misaki; Hideki Shimomura; Yasuhiko Tanaka; Satoru Yoshida; Kei Murayama; Kimitoshi Nakamura; Ryoji Fujiki; Osamu Ohara; Hideo Sasai; Toshiyuki Fukao; Yasuhiro Takeshima
Journal:  Hum Genome Var       Date:  2018-08-16
  5 in total

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