Heterozygous mutations inHSD17B4cause juvenile peroxisomal D-bifunctional protein deficiency-Reference-Cited by-同舟云学术

Heterozygous mutations inHSD17B4cause juvenile peroxisomal D-bifunctional protein deficiency

Published:2016-10-18 Issue:6 Volume:2 Page:e114
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Amor David J.,Marsh Ashley P.L.,Storey Elsdon,Tankard Rick,Gillies Greta,Delatycki Martin B.,Pope Kate,Bromhead Catherine,Leventer Richard J.,Bahlo Melanie,Lockhart Paul J.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),Clinical Neurology

Reference14 articles.

1. Clinical and biochemical spectrum of D-bifunctional protein deficiency

2. Wanders RJA , Barth PG , Heymans HSA . Single peroxisomal enzyme deficiencies. In: Scriver CR , Beaudet AL , Sly WS , Valle D , editors. The Molecular and Metabolic Basis of Inherited Disease. New York: McGraw-Hill; 2001:3219–3256.

3. Expanding the genotypic spectrum of Perrault syndrome

4. Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency;Lieber;BMC Med Genet,2014

5. Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing;Lines;Neurology,2014

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