Richard Rodenburg
0000-0001-5227-3527
190 papers found
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Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome.
Mitochondrial complex V expression and activity in cystinotic fibroblasts.
Complex I deficiency due to a NDUFAF2 defect in a boy with acute fulminant course of Leigh disease and typical brainstem lesions
Cutis laxa syndromes with congenital disorder of glycosylation: Clinical, biochemical and genetic review
Nutrition, growth and the mitochondrial function
MR spectroscopy of the brain in Leigh syndrome.
Mitochondrial respiratory chain complex activities do not differentiate between physical inactivity and genetically confirmed mitochondrial disorders
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
Overexpression of Akt converts radial growth melanoma to vertical growth melanoma
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.
Investigation of mitochondrial mutations and haplogroup in Iranian patients with Parkinson's and Alzheimer's disease
Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome.
X-linkedNDUFA1gene mutations associated with mitochondrial encephalomyopathy
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.
Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency.
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.
Correlation between anthropometric parameters and mitochondrial ATP-production
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
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