Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
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Chronic intestinal pseudo-obstructionMitochondrial CardiomyopathiesGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityMitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approachesMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsClinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathyGastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletionTransgenic cardiac-targeted overexpression of human thymidylate kinaseDefects in mitochondrial DNA replication and human diseaseThe neuro-ophthalmology of mitochondrial diseaseTargeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in miceNeuroimaging of mitochondrial disease.Inherited mitochondrial diseases of DNA replicationA large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletionsMitochondrial DNA: impacting central and peripheral nervous systems.Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiencyAllogeneic 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)Jejunal diverticulae: reports of two cases with review of literature.Mitochondrial deficiency in Cockayne syndrome.Mitochondrial DNA abnormalities in ophthalmological disease.Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient miceMNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.Volvulus as a complication of chronic intestinal pseudo-obstruction syndromePoor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Neuromuscular diseases with hypertrophic cardiomyopathyDistinct substrate specificity and physicochemical characterization of native human hepatic thymidine phosphorylase
P2860
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P2860
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
description
2000 nî lūn-bûn
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2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
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2000年論文
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2000年论文
@wuu
name
Mitochondrial neurogastrointes ...... idine phosphorylase mutations.
@ast
Mitochondrial neurogastrointes ...... idine phosphorylase mutations.
@en
type
label
Mitochondrial neurogastrointes ...... idine phosphorylase mutations.
@ast
Mitochondrial neurogastrointes ...... idine phosphorylase mutations.
@en
prefLabel
Mitochondrial neurogastrointes ...... idine phosphorylase mutations.
@ast
Mitochondrial neurogastrointes ...... idine phosphorylase mutations.
@en
P2093
P1433
P1476
Mitochondrial neurogastrointes ...... idine phosphorylase mutations.
@en
P2093
Connolly AM
Guimarães J
Hadjigeorgiou GM
P304
P356
10.1002/1531-8249(200006)47:6<792::AID-ANA12>3.3.CO;2-P
P577
2000-06-01T00:00:00Z