382 results on '"Sengers, R C"'
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2. Myopathology in patients with a Noonan phenotype
3. Benign mitochondrial encephalomyopathy in a patient with complex I deficiency
4. Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain
5. Congenital muscular dystrophy: A study on the variability of morphological changes and dystrophin distribution in muscle biopsies
6. A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis
7. Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies
8. Lipid peroxidation in homocysteinaemia
9. The use of chorionic villi in prenatal diagnosis of mitochondriopathies
10. Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies
11. 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 glucose
12. Increased volume density of peripheral mitochondria in skeletal muscle of children with exercise intolerance
13. Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies
14. Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies
15. Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts
16. Deficiency of the α and β subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death
17. Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment
18. Infantile motor neuron disease with autonomic dysfunction and bunina bodies
19. Komplex-I-Defizienzen im Kindesalter
20. Dilated cardiomyopathy with 3-methylglutaconic aciduria
21. Mitochondrial Myopathies: Multiple Enzyme Defects in the Respiratory Chain
22. 3-methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism
23. Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach
24. Secondary mitochondrial pathology
25. Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy
26. Percutaneous needle biopsy of skeletal muscle in childhood
27. Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity
28. Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy
29. Combined deficiencies of complexes III and IV of the respiratory chain, involving both nuclear and mitochondrial gene products, in skeletal muscle of a patient with lactic acidosis
30. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q
31. Foamy myocardial transformation in a child with a disturbed respiratory chain
32. Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency
33. Organic aciduria in hypoxic premature newborns simulating an inborn error of metabolism
34. Mitochondrial myopathies: Clinical, morphological and biochemical aspects
35. Effects of parenteral nutrition with lipids on the human liver: An electron-microscopic study
36. Recurrent exertional rhabdomyolysis and stunted growth
37. Chronic mild diarrhoea, stunted growth and neuromuscular abnormalities: A case report
38. Dysmyelination and disturbed metabolism of pyruvate: a case report
39. A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency
40. Morphological observations in skeletal muscle from patients with a mitochondrial myopathy
41. Muscle phosphorylase deficiency in childhood
42. Hemolytic action of staphylococcal α-hemolysin on human erythrocytes in a Na+- and K+-containing suspending fluid
43. Influence of human milk on the development of antistaphylococcal immunity
44. Dihydrothymine Dehydrogenase Deficiency: A Cause of Cerebral Dysfunction?
45. Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency
46. Maternal phenylketonuria: comparison of two treated full term pregnancies
47. Metabolic Myopathies Associated with Stunted Growth1
48. Genetic mapping of the β1- and Ò-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility
49. Smith-Lemli-Opitz Syndrome and the DHCR7 Gene
50. In vivo induced malignant hyperthermia in pigs. II. Metabolism of skeletal muscle mitochondria.
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