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-Reference-Cited by-同舟云学术

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

Published:2013 Issue:1 Volume:8 Page:83
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Alfadhel Majid,Almuntashri Makki,Jadah Raafat H,Bashiri Fahad A,Al Rifai Muhammad,Al Shalaan Hisham,Al Balwi Mohammed,Al Rumayan Ahmed,Eyaid Wafaa,Al-Twaijri Waleed

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference6 articles.

1. Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

2. Biotin-Responsive Basal Ganglia Disease: Case Report and Review of the Literature

3. Biotin-Responsive Basal Ganglia Disease: A Treatable and Reversible Neurological Disorder of Childhood

4. Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations

5. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3mutations

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1. Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene;Human Cell;2024-07-09

2. Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives;International Journal of Molecular Sciences;2024-06-14

3. Wernicke encephalopathy induced by glucose infusion: A case report and literature review;Heliyon;2024-04

4. Infantile leigh-like syndrome: A rare presentation of biotin-thiamine responsive basal ganglia disease;2024-03-21

5. Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-Responsive Basal Ganglia disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene;2024-03-06