Clinical diversity of pyruvate dehydrogenase deficiency-Reference-Cited by-同舟云学术

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Clinical diversity of pyruvate dehydrogenase deficiency

Published:1994-06 Issue:4 Volume:10 Page:276-283
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Helen Cross J,Connelly Alan,Gadian David G,Kendall Brian E,Brown Gary K,Brown Ruth M,Leonard James V

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference35 articles.

1. Lactic acidaemia;Robinson;J Inherited Metab Dis,1984

2. Disorders of pyruvate metabolism, the citric acid cycle and the respiratory chain;De Vivo,1990

3. Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex;Robinson;J Pediatr,1987

4. Pyruvate dehydrogenase E1α deficiency;Brown;J Inherited Metab Dis,1992

5. X-chromosome localisation of the functional gene for the E1 subunit of the human pyruvate dehydrogenase complex;Brown;Genomics,1989

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2. Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency;2024-04-10

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4. Organic Acids;Volpe's Neurology of the Newborn;2018

5. Brain Disorders;Imaging and Metabolism;2017-09-27

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