Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease-Reference-Cited by-同舟云学术

Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease

Published:2023-04-25 Issue:17 Volume:100 Page:836-839
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Maney Kayli¹,Pizoli Carolyn¹,Russ Jeffrey B.¹

Affiliation:

1. From the Child Neurology Residency Program (K.M.), Department of Pediatrics, Duke University Medical Center, Durham, NC; and Department of Pediatrics (C.P., J.B.R.), Division of Pediatric Neurology, Duke University School of Medicine, Durham, NC.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000206832

Reference15 articles.

1. Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

2. Reliability of MRI in detection and differentiation of acute neonatal/pediatric encephalopathy causes among neonatal/pediatric intensive care unit patients;Hassan TA;Egypt J Radiol Nucl Med.,2020

3. Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency

4. Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

5. Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review

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. 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. 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

4. Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome;Heliyon;2024-03

5. Metabolic decompensation in an infant or child;Neurogenetics for the Practitioner;2024