Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease | Zendy

Tobias B. Haack | Zendy; Dirk Klee | Zendy; Tim M. Strom | Zendy; Ertan Mayatepek | Zendy; Thomas Meitinger | Zendy; Holger Prokisch | Zendy; Felix Distelmaier | Zendy

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Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Author(s) -

Tobias B. Haack,

Dirk Klee,

Tim M. Strom,

Ertan Mayatepek,

Thomas Meitinger,

Holger Prokisch,

Felix Distelmaier

Publication year - 2014

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awu128

Subject(s) - thiamine , encephalopathy , medicine , exome sequencing , pediatrics , disease , mutation , genetics , biology , gene

1 Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany 2 Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany 3 Department of Diagnostic and Interventional Radiology, Heinrich-Heine University, Düsseldorf, Germany 4 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children’s Hospital, Heinrich-Heine University, Düsseldorf, Germany

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