15 results on '"Smeitink, J. A. M."'
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2. Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
3. Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies
4. Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note
5. Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system
6. Mitochondrial disorders: Clinical presentation and diagnostic dilemmas
7. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
8. Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient
9. Abnormal glutathione conjugation in patients with tyrosinaemia type I
10. Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
11. Peroxisomal disorders: A review
12. Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
13. Cerebrospinal fluid organic acids in biotinidase deficiency
14. Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis
15. The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report
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