Late-onset MNGIE due to partial loss of thymidine phosphorylase activity

Annals of Neurology

Volumn 58, Issue 4, 2005, Pages 649-652

  Marti, Ramon ^a,b   Verschuuren, Jan J G M ^c   Buchman, Alan ^d   Hirano, Ikuo ^d   Tadesse, Saba ^a   Van Kuilenburg, André B P ^e   Van Gennip, Albert H ^e,f   Poorthuis, Ben J H M ^c   Hirano, Michio ^a  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d NORTHWESTERN UNIVERSITY   (United States)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DEOXYURIDINE; THYMIDINE; THYMIDINE PHOSPHORYLASE; THYMINE; VALINE;

ADULT; ARTICLE; BIOACCUMULATION; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROMYOGRAM; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME ASSAY; ENZYME DEFECT; ENZYME REPLACEMENT; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MNGIE SYNDROME; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SKIN FIBROBLAST;

ARGININE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CONSERVED SEQUENCE; FEMALE; GLYCINE; HUMANS; LEUCINE; MALE; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; THYMIDINE PHOSPHORYLASE; VALINE;

EID: 25444439810     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20615     Document Type: Article

References (13)

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