A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q

Johan Fischer, W. Ruitenbeek, F.J.M. Gabreëls, +7

European Journal of Pediatrics

Mitochondrial MyopathyMitochondrial FunctionBiochemistryPhysiologyDegenerative Disease +6

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

R. C. A. Sengers, J. M. F. Trijbels, J. L. Willems, +2

The Journal of Pediatrics

Mitochondrial MyopathyLactic AcidosisCongenital CataractMuscle FunctionKinesiology +7

Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies.

A. M. Stadhouders, P. H. K. Jap, H P Winkler, +2

Proceedings of the National Academy of Sciences

Molecular BiologyCytoskeletonMitochondrial BiologyCellular PhysiologyPathological Inclusions +17

Pyruvate oxidation in rat and human skeletal muscle mitochondria

H. Bookelman, J. M. F. Trijbels, R. C. A. Sengers, +3

Biochemical Medicine

Pyruvate OxidationMitochondrial FunctionBiochemistryPhysiologyMetabolomics +4

Developmental biology of Pneumocystis carinii, an alternative view on the life cycle of the parasite

Mirjam Vossen, Pascal Beckers, J. H. E. T. Meuwissen, +1

Parasitology Research

BiologyDevelopmental BiologyProtistParasitic ProtozoaBiological Life Cycle +6

Ophthalmoplegia-plus, a real nosological entity

L. A. K. Bastiaensen, E.M.G. Joosten, Jeroen van Rooij, +6

Acta Neurologica Scandinavica

Ocular DiseaseMitochondrial BiologyAnatomyMitochondrial MyopathyMitochondrial Biogenesis +22

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

R. C. A. Sengers, J. M. F. Trijbels, J. A. J. M. Bakkeren, +5

European Journal of Pediatrics

Developmental BiologyBiochemistryCytochromes BMedicineInherited Metabolic Disease +5

Surface roughness and the use of a peak to background ratio in the X‐ray microanalysis of bio‐organic bulk specimens

A. Boekestein, A.L.H. Stols, E.M. Bouw, +1

Journal of Microscopy

Net PeakX-ray SpectroscopyEngineeringMicroscopyPolycapillary Optics +20

Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease

H. L. S. M. Busard, A.A.W.M. Gabreëls‐Festen, W.O. Renier, +2

Annals of Neurology

Lipid peroxidation in homocysteinaemia

Henk J. Blom, Dries Engelen, G. H. J. Boers, +5

Journal of Inherited Metabolic Disease

BiochemistryLipid PeroxidationPhysiologyMetabolismMedicine +2