Branching enzyme deficiency: Expanding the clinical spectrum

JAMA Neurology

Volumn 71, Issue 1, 2014, Pages 41-47

  Paradas, Carmen ^a,b,e   Akman, Hasan O ^a   Ionete, Carolina ^c   Lau, Heather ^d   Riskind, Peter N ^c   Jones, David E ^c   Smith, Thomas W ^c   Hirano, Michio ^a   DiMauro, Salvatore ^a  

^a NewYork Presbyterian Hospital   (United States)

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^c UNIVERSITY OF MASSACHUSETTS   (United States)

^d NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GBE1 PROTEIN, HUMAN; GLYCOGEN DEBRANCHING ENZYME;

ACUTE DISEASE; CASE REPORT; CLINICAL TRIAL; DISEASE COURSE; ENZYMOLOGY; FEMALE; FOLLOW UP; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 4; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; MULTICENTER STUDY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOLOGY; SPINOCEREBELLAR ATAXIAS;

ACUTE DISEASE; AGE OF ONSET; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE IV; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; SPINOCEREBELLAR ATAXIAS;

EID: 84892420746     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.4888     Document Type: Article

References (18)

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