Thiamine-responsive disease due to mutation of tpk1: Importance of avoiding misdiagnosis-Reference-Cited by-同舟云学术

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Thiamine-responsive disease due to mutation of tpk1: Importance of avoiding misdiagnosis

Published:2017-07-26 Issue:8 Volume:89 Page:870-871
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Invernizzi Federica,Panteghini Celeste,Chiapparini Luisa,Moroni Isabella,Nardocci Nardo,Garavaglia Barbara,Tonduti Davide

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference3 articles.

1. Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

2. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations

3. Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies;Fraser;Mol Genet Metab Rep,2014

Cited by 14 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. Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature;Clinical Dysmorphology;2024-07-16

2. Thiamine metabolism dysfunction syndrome 5 (THMD5) mimicking acute disseminated encephalomyelitis;American Journal of Medical Genetics Part A;2023-08-17

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

4. Thiamine, transporters, and epilepsy;Vitamins and Minerals in Neurological Disorders;2023

5. Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease;BMC Neurology;2022-09-29

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