Pages that link to "Q28252466"
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The following pages link to Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder (Q28252466):
Displaying 50 items.
- Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder (Q22008732) (← links)
- Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA (Q24563813) (← links)
- Chronic intestinal pseudo-obstruction (Q24647826) (← links)
- Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism (Q24795528) (← links)
- Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches (Q26801561) (← links)
- Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options (Q26865135) (← links)
- Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy (Q28248577) (← links)
- An autosomal locus predisposing to deletions of mitochondrial DNA (Q28300006) (← links)
- Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations. (Q30813761) (← links)
- White matter involvement in mitochondrial diseases (Q30981330) (← links)
- Adult onset hereditary leukoencephalopathies (Q31026992) (← links)
- Central nervous system manifestations of mitochondrial disorders (Q31058031) (← links)
- Leukoencephalopathies associated with inborn errors of metabolism in adults (Q31149699) (← links)
- MNGIE: from nuclear DNA to mitochondrial DNA. (Q31882166) (← links)
- Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype (Q33540911) (← links)
- Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy (Q33573502) (← links)
- The use of neuroimaging in the diagnosis of mitochondrial disease. (Q33684841) (← links)
- Revolution in mitochondrial medicine (Q33705828) (← links)
- Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy (Q33723627) (← links)
- Mitochondrial myopathies and encephalomyopathies (Q33785697) (← links)
- Does the patient have a mitochondrial encephalomyopathy? (Q33792208) (← links)
- Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk (Q33810387) (← links)
- Clinical mitochondrial genetics (Q33955376) (← links)
- Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia (Q34174847) (← links)
- Therapeutic prospects for mitochondrial disease (Q34205124) (← links)
- Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy (Q34208670) (← links)
- The genetics and pathology of oxidative phosphorylation (Q34237999) (← links)
- A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA. (Q34280331) (← links)
- The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. (Q34369558) (← links)
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. (Q34386670) (← links)
- Clinical spectrum and diagnosis of mitochondrial disorders (Q34386724) (← links)
- Diseases caused by nuclear genes affecting mtDNA stability (Q34386744) (← links)
- Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice (Q34441342) (← links)
- Diagnosis and management of mitochondrial diseases (Q34516793) (← links)
- Diagnosis and treatment of childhood mitochondrial diseases (Q34566415) (← links)
- Neuromuscular diseases and disorders of the alimentary system (Q34737044) (← links)
- The dual role of thymidine phosphorylase in cancer development and chemotherapy (Q34980526) (← links)
- Substoichiometric shifting in the plant mitochondrial genome is influenced by a gene homologous to MutS (Q35022544) (← links)
- Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features (Q35038630) (← links)
- Models of mitochondrial disease (Q35038672) (← links)
- Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency (Q35095598) (← links)
- Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children (Q35124267) (← links)
- Genetics and mitochondrial abnormalities in autism spectrum disorders: a review (Q35132741) (← links)
- Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE (Q35133264) (← links)
- Myopathies (Q35149282) (← links)
- Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification (Q35166737) (← links)
- Gastrointestinal manifestations of mitochondrial disease (Q35561244) (← links)
- Mitochondriopathies (Q35685889) (← links)
- CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders (Q35870630) (← links)
- Mitochondrial ATP transporter Ant2 depletion impairs erythropoiesis and B lymphopoiesis (Q35941463) (← links)