Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype-Reference-Cited by-同舟云学术

Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype

Published:2020-12 Issue: Volume:199 Page:106258
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Au Lisa Wing Chi^ORCID,Lee Hencher Han Chih^ORCID,Sheng Bun,Chan Kwok Yin,Yau Eric Kin Cheong,Mak Chloe Miu,Chan Albert Yan Wo,Chan Anne Yin Yan,Lau Claire Ka Yee,Mok Vincent Chung Tong,Lam Ching Wan

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference5 articles.

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2. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations;Banka;Mol. Genet. Metab.,2014

3. Thiamine-responsive disease due to mutation of tpk1: importance of avoiding misdiagnosis;Invernizzi;Neurology,2017

4. Ending a 40-year-diagnostic odyssey by clinical whole exome sequencing for a treatable neurological disease;Lam;Pathology,2016

5. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces;Venselaar;BMC Bioinformatics,2010

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2. Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review;Frontiers in Pediatrics;2023-08-09

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