JIMD reports

ISSN: 2192-8304
eISSN: 2192-8312
Publisher: Society for the Study of Inborn Errors of Metabolism

Publications (2)

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Journal article
Unpublished / Preprint

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Abstract

A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme a, causes metabolic crises and epileptic encephalopathy (2019) Iuso A, Alhaddad B, Weigel C, Kotzaeridou U, Mastantuono E, Schwarzmayr T, Graf E, et al. Book chapter / Article in edited volumes A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica (2017) Lobo-Prada T, Sticht H, Bogantes-Ledezma S, Ekici AB, Uebe S, Reis A, Leal A Journal article