Differential diagnosis of lipoic acid synthesis defects-Reference-Cited by-同舟云学术

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Differential diagnosis of lipoic acid synthesis defects

Published:2016-09-01 Issue:6 Volume:39 Page:781-793
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Tort Frederic,Ferrer-Cortes Xènia,Ribes Antonia

Funder

Departament d’Innovació, Universitats i Empresa, Generalitat de Catalunya

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-016-9975-4.pdf

Reference57 articles.

1. Ahting U, Mayr JA, Vanlander AV et al (2015a) Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Front Genet 6:123

2. Ahting U, Rolinski B, Haack T et al (2015b) FeS cluster biogenesis defect in a patient with mutations in ISCA2. J Inherit Metab Dis 38(1):S218

3. Ajit Bolar N, Vanlander AV, Wilbrecht C et al (2013) Mutation of the iron–sulphur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum Mol Genet 22:2590–2602

4. Al-Hassnan ZN, Al-Dosary M, Alfadhel M et al (2015) ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet 52:186–194

5. Baker PR, Friederich MW, Swanson MA et al (2014) Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain 137:366–379

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4. Lipoic acid attachment to proteins: stimulating new developments;Microbiology and Molecular Biology Reviews;2024-06-27

5. Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history;2024-02-21

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