Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation inSLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data-Reference-Cited by-同舟云学术

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation inSLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data

Published:2017-04-12 Issue:6 Volume:173 Page:1502-1513
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ferreira Carlos R.¹²³^ORCID,Whitehead Matthew T.³⁴,Leon Eyby²

Affiliation:

1. National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

2. Division of Genetics and Metabolism; Children's National Health System; Washington District of Columbia

3. The George Washington University School of Medicine; Washington; District of Columbia

4. Division of Diagnostic Imaging and Radiology; Children's National Health System; Washington District of Columbia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference38 articles.

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2. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: A retrospective review of the clinical, radiological and molecular findings of 18 new cases;Alfadhel;Orphanet Journal of Rare Diseases,2013

3. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities;Bainbridge;Genome Biology,2011

4. Marker of parasitic cysts on in vivo proton magnetic resonance spectroscopy: Is it succinate or pyruvate;Chawla;Journal of Magnetic Resonance Imaging,2004

5. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations;Debs;Archives of Neurology,2010

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