Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-010-9049-y
Reference20 articles.
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2. Fairbanks LD, Marinaki AM, Carrey EA, Hammans SR, Duley JA (2002) Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE). J Inherit Metab Dis 25:603–604
3. Giordano C, Sebastiani M, De Giorgio R, Travaglini C, Tancredi A, Valentino ML, Bellan M, Cossarizza A, Hirano M, d’Amati G, Carelli V (2008) Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. Am J Pathol 173:1120–1128
4. Hirano M, Marti R, Casali C, Tadesse S, Uldrick T, Fine B, Escolar DM, Valentino ML, Nishino I, Hesdorffer C, Schwartz J, Hawks RG, Martone DL, Cairo MS, DiMauro S, Stanzani M, Garvin JH Jr, Savage DG (2006) Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 67:1458–1460
5. Laforce R Jr, Valdmanis PN, Dupre N, Rouleau GA, Turgeon AF, Savard M (2009) A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy. Clin Neurol Neurosurg 111:691–694
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1. Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction;Journal of Molecular Medicine;2023-08-21
2. TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis;Frontiers in Genetics;2020-08-05
3. Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE);Diagnosis and Management of Mitochondrial Disorders;2019
4. Encéphalopathie mitochondriale neuro-gastro-intestinale (MNGIE) : quand et comment l’évoquer devant une anorexie mentale atypique ?;L'Encéphale;2016-12
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