Literature DB >> 7853374

Pyruvate dehydrogenase deficiency.

G K Brown1, L J Otero, M LeGris, R M Brown.   

Abstract

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Year:  1994        PMID： 7853374      PMCID： PMC1016663          DOI： 10.1136/jmg.31.11.875

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  21 in total

1.  Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes.

Authors:  B H Robinson; K Chun; N Mackay; G Otulakowski; R Petrova-Benedict; H Willard
Journal:  Ann N Y Acad Sci       Date:  1989       Impact factor: 5.691

2.  Subacute necrotizing encephalomyelopathy. A review and a study of two families.

Authors:  V J Montpetit; F Andermann; S Carpenter; J S Fawcett; D Zborowska-Sluis; H R Giberson
Journal:  Brain       Date:  1971       Impact factor: 13.501

3.  Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.

Authors:  G K Brown; R D Scholem; S M Hunt; J R Harrison; A C Pollard
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency.

Authors:  R M Brown; G K Brown
Journal:  Prenat Diagn       Date:  1994-06       Impact factor: 3.050

5.  Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.

Authors:  B H Robinson; H MacMillan; R Petrova-Benedict; W G Sherwood
Journal:  J Pediatr       Date:  1987-10       Impact factor: 4.406

6.  Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia.

Authors:  D J Byrd; H P Krohn; L Winkler; C Steinborn; M Hadam; J Brodehl; D H Hunneman
Journal:  Eur J Pediatr       Date:  1989-04       Impact factor: 3.183

7.  Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).

Authors:  H A Kretzschmar; S J DeArmond; T K Koch; M S Patel; C J Newth; K A Schmidt; S Packman
Journal:  Pediatrics       Date:  1987-03       Impact factor: 7.124

Review 8.  Genetic defects in human pyruvate dehydrogenase.

Authors:  L Ho; I D Wexler; D S Kerr; M S Patel
Journal:  Ann N Y Acad Sci       Date:  1989       Impact factor: 5.691

9.  Neuropathology in cerebral lactic acidosis.

Authors:  C W Chow; R M Anderson; G C Kenny
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

10.  "Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.

Authors:  G K Brown; E A Haan; D M Kirby; R D Scholem; J E Wraith; J G Rogers; D M Danks
Journal:  Eur J Pediatr       Date:  1988-01       Impact factor: 3.183
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  50 in total

Review 1.  Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation.

Authors:  R G Gray; M A Preece; S H Green; W Whitehouse; J Winer; A Green
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-07       Impact factor: 10.154

Review 2.  Clinical mitochondrial genetics.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  Development of head organizer of the mouse embryo depends on a high level of mitochondrial metabolism.

Authors:  Xin Zhou; Kathryn V Anderson
Journal:  Dev Biol       Date:  2010-05-04       Impact factor: 3.582

Review 4.  Diversity and origins of anaerobic metabolism in mitochondria and related organelles.

Authors:  Courtney W Stairs; Michelle M Leger; Andrew J Roger
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2015-09-26       Impact factor: 6.237

5.  ATP6AP2/(pro)renin receptor contributes to glucose metabolism via stabilizing the pyruvate dehydrogenase E1 β subunit.

Authors:  Atsuhiro Kanda; Kousuke Noda; Susumu Ishida
Journal:  J Biol Chem       Date:  2015-02-26       Impact factor: 5.157

6.  Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Authors:  Cheryl K Ridout; Ruth M Brown; John H Walter; Garry K Brown
Journal:  Hum Genet       Date:  2008-08-17       Impact factor: 4.132

Review 7.  Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.

Authors:  W Ruitenbeek; U Wendel; B C Hamel; J M Trijbels
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 8.  Mitochondrial disorders.

Authors:  Shibani Kanungo; Jacob Morton; Mekala Neelakantan; Kevin Ching; Jasmine Saeedian; Amy Goldstein
Journal:  Ann Transl Med       Date:  2018-12

9.  Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation.

Authors:  Pratibha Singhi; Linda De Meirleir; Willy Lissens; Sunit Singhi; Arushi Gahlot Saini
Journal:  JIMD Rep       Date:  2013-02-12

10.  A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.

Authors:  Michael R Taylor; James B Hurley; Heather A Van Epps; Susan E Brockerhoff
Journal:  Proc Natl Acad Sci U S A       Date:  2004-03-15       Impact factor: 11.205
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