Congenital Fumarase Deficiency Presenting With Hypotonia and Areflexia-Reference-Cited by-同舟云学术

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Congenital Fumarase Deficiency Presenting With Hypotonia and Areflexia

Published:1996-05 Issue:3 Volume:11 Page:252-255
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Narayanan Vinodh¹,Diven Warren¹,Ahdab-Barmada Mamdouha¹

Affiliation:

1. University of Pittsburgh The Children's Hospital of Pittsburgh The WHY-NMD Neuromuscular Institute Pittsburgh, Pennsylvania

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/088307389601100321

Reference15 articles.

1. Fumarase Deficiency: A New Cause of Mitochondrial Encephalomyopathy

2. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

3. A fourth case of fumarase deficiency

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature;Journal of Child Neurology;2020-10-14

2. Clinical and biochemical heterogeneity associated with fumarase deficiency;Human Mutation;2011-07-12

3. Disorders of the Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2010-09-24

4. Fumaric aciduria: an overview and the first Brazilian case report;Journal of Inherited Metabolic Disease;2010-06-15

5. Fumarate Hydratase Deficiency in Monozygotic Twins;Pediatric Neurology;2006-08

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