Literature DB >> 9501272

Complex I deficiency in association with structural abnormalities of the diaphragm and brain.

C Ellaway1, K North, S Arbuckle, J Christodoulou.   

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Year:  1998        PMID： 9501272     DOI： 10.1023/a:1005367515701

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


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  5 in total

1.  Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.

Authors:  E R Hauser; J E Finkelstein; D Valle; S W Brusilow
Journal:  N Engl J Med       Date:  1990-06-07       Impact factor: 91.245

2.  Oxidative phosphorylation defect associated with primary adrenal insufficiency.

Authors:  K North; M S Korson; N Krawiecki; J M Shoffner; I A Holm
Journal:  J Pediatr       Date:  1996-05       Impact factor: 4.406

3.  Craniofacial anomalies and malformations in respiratory chain deficiency.

Authors:  V Cormier-Daire; P Rustin; A Rötig; D Chrétien; M Le Merrer; D Belli; A Le Goff; P Hubert; C Ricour; A Munnich
Journal:  Am J Med Genet       Date:  1996-12-30

4.  Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.

Authors:  S Vella; F Steiner; V Schlumbom; R Zurbrügg; U N Wiesmann; T Schaffner; B Wermuth
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

5.  Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Authors:  S Rahman; R B Blok; H H Dahl; D M Danks; D M Kirby; C W Chow; J Christodoulou; D R Thorburn
Journal:  Ann Neurol       Date:  1996-03       Impact factor: 10.422
  5 in total
  2 in total

1.  Pulmonary hypertension--a new manifestation of mitochondrial disease.

Authors:  A R Barclay; G Sholler; J Christodolou; A Shun; S Arbuckle; S Dorney; M O Stormon
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

Authors:  Canny Sugiana; David J Pagliarini; Matthew McKenzie; Denise M Kirby; Renato Salemi; Khaled K Abu-Amero; Hans-Henrik M Dahl; Wendy M Hutchison; Katherine A Vascotto; Stacey M Smith; Robert F Newbold; John Christodoulou; Sarah Calvo; Vamsi K Mootha; Michael T Ryan; David R Thorburn
Journal:  Am J Hum Genet       Date:  2008-10       Impact factor: 11.025
  2 in total

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