Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
about
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathyAdult-onset leukodystrophies from respiratory chain disorders: do they exist?Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathyEncephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkThe role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.Allogeneic stem cell transplantation corrects biochemical derangements in MNGIECoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient miceBiochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.MtDNA-maintenance defects: syndromes and genes.Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.
P2860
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P2860
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
@en
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
@nl
type
label
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
@en
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
@nl
prefLabel
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
@en
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
@nl
P2093
P2860
P356
P1433
P1476
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity
@en
P2093
Alan Buchman
Albert H van Gennip
André B P van Kuilenburg
Ben J H M Poorthuis
Ikuo Hirano
Michio Hirano
Saba Tadesse
P2860
P304
P356
10.1002/ANA.20615
P577
2005-10-01T00:00:00Z