147 results on '"Ruitenbeek, Wim"'
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2. Cytoarchitectural and metabolic adaptations in muscles with mitochondrial and cytosolic creatine kinase deficiencies
3. Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex
4. Creatine Kinase (CK) in Skeletal Muscle Energy Metabolism: A Study of Mouse Mutants with Graded Reduction in Muscle CK Expression
5. End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation
6. Human Mitochondrial Transmembrane Metabolite Carriers: Tissue Distribution and Its Implication for Mitochondrial Disorders
7. Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex
8. Importance of mitochondrial transmembrane processes in human mitochondriopathies
9. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
10. Supplemental Oxygen Prevents Exercise-induced Oxidative Stress in Muscle-wasted Patients with Chronic Obstructive Pulmonary Disease
11. Altered Ca2+ responses in muscles with combined mitochondrial and cytosolic creatinine kinase deficiencies
12. EFFECT OF CARNITINE SUPPLEMENTATION ON MUSCLE FUNCTION IN CYSTINOSIS PATIENTS WITH FANCONI SYNDROME
13. Creatine kinase (CK) in skeletal muscle energy metabolism: a study of mouse mutants with graded reduction in muscle CK expression
14. Skeletal muscles of mice deficient in muscle creatine kinase lack burst activity
15. Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine
16. Lack of voltage-dependent anion channel in human mitochondrial myopathies
17. Immotile Sperm and Infertility in Mice Lacking Mitochondrial Voltage-dependent Anion Channel Type 3
18. Mapping of the Human Voltage-Dependent Anion Channel Isoforms 1 and 2 Reconsidered
19. Polyacrylamide gel technique for the histochemical demonstration of soluble enzymes
20. PROTON SPECTROSCOPY IN FIVE PATIENTS WITH LEIGH'S DISEASE AND MITOCHONDRIAL ENZYME DEFICIENCY
21. Human Diseases with Defects in Oxidative Phosphorylation
22. Contribution of various metabolites to the “unmeasured” anions in critically ill patients with metabolic acidosis*
23. The nature of unmeasured anions in critically ill patients
24. Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology
25. Cerebral Cortical Tissue Damage After Hemorrhagic Hypotension in Near-Term Born Lambs
26. Cortical Excitatory Amino Acid Release and Cell Function during Hypotension in Near-Term Born Lambs
27. Normal Serum Alanine Concentration Differentiates Transient Neonatal Lactic Acidemia from an Inborn Error of Energy Metabolism
28. Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase
29. Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome
30. Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families
31. Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns–Sayre/MELAS overlap syndrome and A3243G mtDNA mutation
32. Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit
33. Disturbances in mitochondrial transport systems leading to encephalomyopathies
34. Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient
35. Use of gene targeting for compromising energy homeostasis in neuro-muscular tissues: The role of sarcomeric mitochondrial creatine kinase
36. Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy
37. Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency
38. Electrophoretic separation of multiprotein complexes from blood platelets and cell lines: Technique for the analysis of diseases with defects in oxidative phosphorylation
39. Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy
40. Human Diseases with Defects in Oxidative Phosphorylation. 1. Decreased Amounts of Assembled Oxidative Phosphorylation Complexes in Mitochondrial Encephalomyopathies
41. Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation
42. Effects of the creatine analogue β-guanidinopropionic acid on skeletal muscles of mice deficient in muscle creatine kinase
43. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
44. Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect
45. Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy
46. 147 POSTNATAL DEVELOPMENT OF PYRUVATE OXIDATION IN SKELETAL MUSCLE OF THE RAT
47. Excitatory amino acid release and electrocortical brain activity after hypoxemia in near-term lambs
48. Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency.
49. Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency.
50. Mitochondrial Encephalomyopathy: Association With an NADH Dehydrogenase Deficiency
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