Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
about
Statin adverse effects : a review of the literature and evidence for a mitochondrial mechanismChronic intestinal pseudo-obstructionMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsInborn errors of pyrimidine metabolism: clinical update and therapyClinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathyCentral nervous system manifestations of mitochondrial disorders.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkCoQ(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.Molecular diagnostics and mitochondrial dysfunction: a future perspective.Mitochondrial-associated metabolic disorders: foundations, pathologies and recent progress.Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.Mitochondrial neuro-gastrointestinal encephalomyopathy presenting with recurrent bowel perforations and intra-abdominal abscesses.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.Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.Advances in molecular diagnostics for mitochondrial diseases.Mitochondrial thymidine kinase and the enzymatic network regulating thymidine triphosphate pools in cultured human cells.Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.MtDNA-maintenance defects: syndromes and genes.Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports.Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts.The clinical eye.A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.Successful cochlear implantation in a patient with MNGIE syndrome.
P2860
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P2860
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Definitive diagnosis of mitoch ...... yopathy by biochemical assays.
@en
Definitive diagnosis of mitoch ...... yopathy by biochemical assays.
@nl
type
label
Definitive diagnosis of mitoch ...... yopathy by biochemical assays.
@en
Definitive diagnosis of mitoch ...... yopathy by biochemical assays.
@nl
prefLabel
Definitive diagnosis of mitoch ...... yopathy by biochemical assays.
@en
Definitive diagnosis of mitoch ...... yopathy by biochemical assays.
@nl
P2093
P1433
P1476
Definitive diagnosis of mitoch ...... yopathy by biochemical assays.
@en
P2093
Antonella Spinazzola
Michio Hirano
Saba Tadesse
Yutaka Nishigaki
P304
P356
10.1373/CLINCHEM.2003.026179
P407
P577
2003-11-18T00:00:00Z