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
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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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3. TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis;Frontiers in Genetics;2020-08-05
4. Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE);Diagnosis and Management of Mitochondrial Disorders;2019
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