Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up

Journal of Neurology

Volumn 259, Issue 9, 2012, Pages 1985-1987

  Sicurelli, F ^a   Carluccio, M A ^a   Toraldo, F ^a   Tozzi, M ^a   Bucalossi, A ^a   Lenoci, M ^a   Jacomelli, G ^a   Micheli, V ^a   Cardaioli, E ^a   Mondelli, M ^b   Federico, A ^a   Marotta, G ^a   Dotti, M T ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b EMG Service   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BUSULFAN; CYCLOSPORIN; FLUDARABINE; METHOTREXATE;

ABDOMINAL PAIN; ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; CASE REPORT; CONTINUOUS INFUSION; DIARRHEA; ELECTROMYOGRAPHY; FATIGUE; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GRAFT VERSUS HOST REACTION; HOMOZYGOSITY; HUMAN; LETTER; LIMB WEAKNESS; MITOCHONDRIAL TOXICITY; MNGIE SYNDROME; MOTOR NERVE CONDUCTION; MYELOABLATIVE CONDITIONING; NEUTROPHIL COUNT; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SENSORY NEUROPATHY; TENDON REFLEX; THROMBOCYTE COUNT; TREATMENT OUTCOME; TYMP GENE; VOMITING;

ELECTROMYOGRAPHY; EVOKED POTENTIALS, MOTOR; FEMALE; FOLLOW-UP STUDIES; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; MITOCHONDRIAL ENCEPHALOMYOPATHIES; NEURAL CONDUCTION; PERIPHERAL NERVES; YOUNG ADULT;

EID: 84867332633     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6500-z     Document Type: Letter

References (7)

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5. Cardaioli E, Sicurelli F, Carluccio MA et al (2012) A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy. J Neurol 259:172-174
6. Hirano M, Casali C, Tadesse S et al (2008) Sustained biochemical and clinical improvements two years postallogeneic stem cell transplantation in a patient with MNGIE. In: AAN annual meeting. Available via http://www. abstracts2view.com/aan2008chicago/. Accessed 13 April 2010
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