MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
about
Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.EFNS guidelines on the molecular diagnosis of mitochondrial disorders.Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.Mammalian mitochondria possess homologous DNA recombination activity.Defects of mitochondrial DNA.Disorders associated with multiple deletions of mitochondrial DNA.Absence of mitochondrial superoxide dismutase results in a murine hemolytic anemia responsive to therapy with a catalytic antioxidant.Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthoodInduced pluripotent stem cells with a mitochondrial DNA deletionCongenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).Gastrointestinal and hepatic manifestations of mitochondrial disorders.Mitochondrial DNA rearrangements in health and disease--a comprehensive study.Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics.Neuropathy associated with mitochondrial disorders.Mitochondrial DNA mutations and age.MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction.Mitochondrial DNA variations in myelodysplastic syndrome.Ex vivo zidovudine (AZT) treatment of CD34+ bone marrow progenitors causes decreased steady state mitochondrial DNA (mtDNA) and increased lactate production.Pathogenic mitochondrial DNA-induced respiration defects in hematopoietic cells result in anemia by suppressing erythroid differentiation.Statistical analysis of mitochondrial pathologies in childhood: identification of deficiencies using principal component analysis.Mitochondrial DNA and Disease
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P2860
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
description
article publié dans la revue scientifique The Lancet
@fr
im April 1989 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published in The Lancet
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 1989
@uk
ശാസ്ത്രപ്രബന്ധം
@ml
name
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
@en
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
@nl
type
label
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
@en
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
@nl
prefLabel
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
@en
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
@nl
P2093
P1433
P1476
MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME
@en
P2093
J.M Saudubray
J.P Bonnefont
P304
P356
10.1016/S0140-6736(89)92897-3
P407
P577
1989-04-01T00:00:00Z