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Brain : a Journal of Neurology|June 1, 1996
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic statusP H van Domburg, A A Gabreëls-Festen, F J Gabreëls, et al.Documenta Ophthalmologica. Advances in Ophthalmology|January 29, 1982
Kearns syndrome: a heterogeneous group of disorders with CPEO, or a nosological entity?L A Bastiaensen, C W Frenken, H J Ter Laak, et al.Journal of Neurology|January 1, 1993
Mitochondrial encephalomyopathy, lactic acidosis and stroke in adults: two casesH P Kremer, A Keyser, A R Wintzen, et al.European Journal of Pediatrics|April 1, 1983
Demyelination and disturbed metabolism of pyruvate: a case reportR C Sengers, J M Trijbels, J A Bakkeren, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucoseR J Wanders, F A Wijburg, J Ruiter, et al.European Journal of Pediatrics|July 1, 1994
Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcificationsJ F Samson, P G Barth, J I de Vries, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|January 15, 1988
Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiencyH L van Laack, W Ruitenbeek, J M Trijbels, et al.Journal of Bioenergetics and Biomembranes|September 11, 1998
Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disordersM Huizing, W Ruitenbeek, L P van den Heuvel, et al.Journal of the Neurological Sciences|February 1, 1987
Intravenous pyruvate loading test in Leigh syndromeP M Van Erven, F J Gabreëls, R A Wevers, et al.European Journal of Pediatrics|September 1, 1983
A mitochondrial myopathy with a defective respiratory chain and carnitine deficiencyR C Sengers, J C Fischer, J M Trijbels, et al.Pageof 11