Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
about
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorderTwinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNAChronic intestinal pseudo-obstructionNeonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.Mitochondrial 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 encephalomyopathyAn autosomal locus predisposing to deletions of mitochondrial DNABrain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.Central nervous system manifestations of mitochondrial disorders.Leukoencephalopathies associated with inborn errors of metabolism in adults.Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathyThe use of neuroimaging in the diagnosis of mitochondrial disease.Revolution in mitochondrial medicine.Mitochondrial myopathies and encephalomyopathies.Does the patient have a mitochondrial encephalomyopathy?Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkClinical mitochondrial genetics.Therapeutic prospects for mitochondrial disease.Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.Clinical spectrum and diagnosis of mitochondrial disorders.Diseases caused by nuclear genes affecting mtDNA stability.Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in miceDiagnosis and treatment of childhood mitochondrial diseases.Neuromuscular diseases and disorders of the alimentary system.The dual role of thymidine phosphorylase in cancer development and chemotherapy.Substoichiometric shifting in the plant mitochondrial genome is influenced by a gene homologous to MutS.Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiencyGenetics and mitochondrial abnormalities in autism spectrum disorders: a review.Allogeneic stem cell transplantation corrects biochemical derangements in MNGIEMitochondriopathies.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Mitochondrial ATP transporter Ant2 depletion impairs erythropoiesis and B lymphopoiesisThymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Regulation of mitochondrial DNA content and cancer.Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.Disorders of nuclear-mitochondrial intergenomic communication.Magnetic resonance imaging in lactic acidosis.
P2860
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P2860
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
description
1994 nî lūn-bûn
@nan
1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@ast
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@en
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@nl
type
label
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@ast
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@en
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@nl
prefLabel
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@ast
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@en
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@nl
P2093
P3181
P356
P1433
P1476
Mitochondrial neurogastrointes ...... cessive mitochondrial disorder
@en
P2093
G Silvestri
R E Lovelace
T E Bertorini
P3181
P356
10.1212/WNL.44.4.721
P407
P577
1994-04-01T00:00:00Z