Phytanic acid ?-oxidase deficiency (Refsum disease) presenting in infancy

Author:

Herbert M. A.,Clayton P. T.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 7 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. Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother;JIMD Reports;2019-03

2. The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency;JIMD Reports;2016

3. A Child With Night Blindness;Journal of Child Neurology;2011-12-07

4. R;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. Lysosomal and Peroxisomal Disorders;Peripheral Neuropathy;2005

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