Haematological abnormalities in mitochondrial disorders

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Haematological abnormalities in mitochondrial disorders.

INTRODUCTION This study aimed to assess the kind of haematological abnormalities that are present in patients with mitochondrial disorders (MIDs) and the frequency of their occurrence. METHODS The blood cell counts of a cohort of patients with syndromic and non-syndromic MIDs were retrospectively reviewed. MIDs were classified as 'definite', 'probable' or 'possible' according to clinical pres...

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Mitochondrial DNA abnormalities and autistic spectrum disorders.

OBJECTIVES To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion.Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three. RESULTS Three patients manifested isola...

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Genetics and Mitochondrial Abnormalities in Autism Spectrum Disorders: A Review

We review the current status of the role and function of the mitochondrial DNA (mtDNA) in the etiology of autism spectrum disorders (ASD) and the interaction of nuclear and mitochondrial genes. High lactate levels reported in about one in five children with ASD may indicate involvement of the mitochondria in energy metabolism and brain development. Mitochondrial disturbances include depletion, ...

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Haematological abnormalities in neonatal necrotizing enterocolitis.

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ژورنال

عنوان ژورنال: Singapore Medical Journal

سال: 2015

ISSN: 0037-5675

DOI: 10.11622/smedj.2015112