Mitochondrial neurogastrointestinal encephalomyopathy: Novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers

Neuropediatrics

Volumn 43, Issue 4, 2012, Pages 201-208

  Libernini, Laura ^a   Lupis, Chiara ^a   Mastrangelo, Mario ^a   Carrozzo, Rosalba ^b   Santorelli, Filippo Maria ^c   Inghilleri, Maurizio ^d   Leuzzi, Vincenzo ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

children; mitochondrial diseases; mitochondrial neurogastrointestinal encephalomyopathy; thymidine phosphorylase

Indexed keywords

THYMIDINE PHOSPHORYLASE;

ADOLESCENT; ARTICLE; CACHEXIA; CASE REPORT; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DIVERTICULOSIS; FAILURE TO THRIVE; GASTROINTESTINAL MOTILITY DISORDER; GENE MUTATION; HUMAN; ITALY; LEUKOENCEPHALOPATHY; LUNG EDEMA; MALE; MNGIE SYNDROME; MOOD DISORDER; MUSCLE HYPOTONIA; OPHTHALMOPLEGIA; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PTOSIS; THROMBOCYTE TRANSFUSION; VOMITING; WEIGHT REDUCTION;

ADOLESCENT; BRAIN; DNA MUTATIONAL ANALYSIS; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; SIBLINGS; THYMIDINE PHOSPHORYLASE;

EID: 84865249301     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0032-1315431     Document Type: Article

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