181 results on '"Smeitink, J. A. M."'
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2. Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study
3. Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
4. Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies
5. Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note
6. Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system
7. Mitochondrial disorders: Clinical presentation and diagnostic dilemmas
8. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency
9. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
10. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
11. Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient
12. Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV
13. Abnormal glutathione conjugation in patients with tyrosinaemia type I
14. A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
15. De Slappe Baby
16. Early cardiac involvement in children carrying the A3243G mtDNA mutation
17. Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine: Proceedings of meeting held at Dromoland Castle, Co. Clare on July 2nd–6th, 1995
18. Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
19. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency
20. The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report
21. Peroxisomal disorders: A review
22. Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
23. Cerebrospinal fluid organic acids in biotinidase deficiency
24. A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis
25. Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis
26. Peripheral blood lymphocyte appearance in a case of I cell disease
27. Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk
28. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
29. Stoornissen in de oxidatieve fosforylering: kliniek, diagnostiek en research
30. NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect
31. Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency
32. Altered folate and vitamin B12 metabolism in families with spina bifida offspring
33. Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation
34. Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited
35. Peripheral blood lymphocyte appearance in a case of I cell disease
36. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
37. Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy
38. Erfelijke stofwisselingsziekten
39. Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications
40. Eukaryotic porin (VDAC) deficiency is associated with a mitochondrial pathological fatal encephalomyopathy
41. Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies
42. Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation
43. A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
44. Mitochondrial Dysfunction in a Patient with Joubert Syndrome
45. Smith-Lemli-Opitz Syndrome and the DHCR7 Gene
46. Human Mitochondrial Complex I Deficiency: Investigating Transcriptional Responses by Microarray
47. De Slappe Baby.
48. Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency
49. Infantile Presentation of the mtDNA A3243G tRNALeu (UUR) Mutation
50. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome
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