Biotin–thiamine–responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment-Reference-Cited by-同舟云学术

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Biotin–thiamine–responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment

Published:2016-12-01 Issue:2 Volume:39 Page:117-125
ISSN:0161-6412
Container-title:Neurological Research
language:en
Short-container-title:Neurological Research

Author:

Algahtani Hussein¹,Ghamdi Saeed¹,Shirah Bader²,Alharbi Bader³,Algahtani Raghad³,Bazaid Abdulrahman⁴

Affiliation:

1. King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia

2. King Abdullah International Medical Research Center/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia

3. King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia

4. Batterjee Medical College, Jeddah, Saudi Arabia

Publisher

Informa UK Limited

Subject

Neurology (clinical),Neurology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/01616412.2016.1263176

Reference24 articles.

1. Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone

2. Biotin-responsive basal ganglia disease: a novel entity

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

4. Biotin and Thiamine Responsive Basal Ganglia Disease – A vital differential diagnosis in infants with severe encephalopathy

5. Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

Cited by 22 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. 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. Efficacy of high thiamine dosage in treating patients with biotin thiamine responsive basal ganglia disease: a two case reports;International Journal of Neuroscience;2024-05-11

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

4. 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

5. Biotin–Thiamin–Responsive Basal Ganglia Disease: A Case Report in a Tertiary Care Hospital in Bangladesh;Paediatric Nephrology Journal of Bangladesh;2024-01

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