Journal article

Clinical spectrum and diagnosis of mitochondrial disorders

A Munnich, P Rustin

American Journal of Medical Genetics | WILEY-LISS | Published : 2001

DOI: 10.1002/ajmg.1391

University of Melbourne Researchers

David Thorburn Author Paediatrics Royal Children's Hospital

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Keywords

Pyruvate-Dehydrogenase Complex

Spectrophotometry

Genetics & Heredity

Ribosomal-Rna Gene

Models, Biological

Mitochondrial Dna

Respiratory-Chain Deficiency

Science & Technology

Transfer Rna(leu(uur)) Gene

Dna, Mitochondrial

C-Oxidase Deficiency

Life Sciences & Biomedicine

Mitochondrial Diseases

Oxidation-Reduction

Magnetic Resonance Spectroscopy

Phosphorylation

Mitochondrial Disease

Clinical Presentation

Marrow-Pancreas Syndrome

Onset Hepatic-Failure

Kearns-Sayre Syndrome

Diabetes-Mellitus