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

Brain

Volumn 137, Issue 9, 2014, Pages

  Haack, Tobias B ^a,b   Klee, Dirk ^c   Strom, Tim M ^a,b   Mayatepek, Ertan ^d   Meitinger, Thomas ^a,b   Prokisch, Holger ^a,b   Distelmaier, Felix ^d  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c HEINRICH HEINE UNIVERSITY   (Germany)

^d UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; LACTIC ACID;

BRAIN STEM INJURY; CASE REPORT; CAUSE OF DEATH; FOLLOW UP; GENE; HOSPITAL ADMISSION; HUMAN; IRRITABILITY; LACTATE BLOOD LEVEL; LEIGH DISEASE; LETTER; MALE; MISSENSE MUTATION; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; SEIZURE; SLC19A3 GENE; VOMITING;

BRAIN CHEMISTRY; EXOME; FEMALE; HUMANS; LEIGH DISEASE; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION;

EID: 84906707890     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu128     Document Type: Letter

References (7)

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7. Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 2005; 77: 16-26.