Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
about
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsClinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathyLiver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathyDeoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.Defects in mitochondrial DNA replication and human diseaseThe role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.Inherited mitochondrial diseases of DNA replicationCODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.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.Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient miceMNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.Molecular diagnostics and mitochondrial dysfunction: a future perspective.Mitochondrial medicine for neurodegenerative diseases.Pathogenesis and treatment of mitochondrial myopathies: recent advances.Mechanisms of mitochondrial diseases.Protein-polymer nanoreactors for medical applications.Peripheral neuropathy associated with mitochondrial disease in children.Gastrointestinal and hepatic manifestations of mitochondrial disorders.Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.Results of the EBMT activity survey 2005 on haematopoietic stem cell transplantation: focus on increasing use of unrelated donors.Recent perspectives of pediatric mitochondrial diseases.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 in a patient with a novel heterozygous POLG mutation.Successful cochlear implantation in a patient with MNGIE syndrome.Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.Sequence analysis of the complete mitochondrial DNA in 10 commonly used inbred rat strains
P2860
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P2860
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
description
2004 nî lūn-bûn
@nan
2004 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
@ast
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
@en
type
label
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
@ast
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
@en
prefLabel
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
@ast
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
@en
P2093
P1433
P1476
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
@en
P2093
Michio Hirano
Ramon Martí
Yutaka Nishigaki
P356
10.1097/01.NRL.0000106919.06469.04
P407
P577
2004-01-01T00:00:00Z