263 results on '"Holme, Elisabeth"'
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2. Disorders of Tyrosine Degradation
3. Disorders of Tyrosine Metabolism
4. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
5. Clinical Manifestation and a New 'ISCU' Mutation in Iron-Sulphur Cluster Deficiency Myopathy
6. Disorders of Tyrosine Degradation
7. Disorders of Tyrosine Metabolism
8. IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria
9. Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy
10. Antisense oligonucleotide therapeutics for iron–sulphur cluster deficiency myopathy
11. Hydroxylation of Aspartic Acid in Domains Homologous to the Epidermal Growth Factor Precursor is Catalyzed by a 2-oxoglutarate-Dependent Dioxygenase
12. Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1
13. Profound biotinidase deficiency: a rare disease among native Swedes
14. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
15. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0
16. Tyrosine Metabolism
17. A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Ε1α gene
18. Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia
19. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
20. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
21. Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy
22. Is paternal mitochondrial DNA transferred to the offspring following intracytoplasmic sperm injection?
23. Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A→G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene
24. Brief Report: Cardiomyopathy and Exercise Intolerance in Muscle Glycogen Storage Disease 0
25. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
26. Tissue distribution and disease manifestations of the tRNALys A»G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres
27. De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring
28. Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions
29. POLG1 Mutations Associated With Progressive Encephalopathy in Childhood
30. Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
31. Mitochondrial Myopathy and Rhabdomyolysis Associated with a Novel Nonsense Mutation in the Gene Encoding Cytochrome c Oxidase Subunit I
32. Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1
33. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
34. Leber's hereditary optic neuropathy and complex I deficiency in muscle
35. A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
36. Glycerol kinase deficiency in two brothers with and without clinical manifestations
37. Mitochondrial DNA Deletions in Muscle Fibers in Inclusion Body Myositis
38. Importance of analyzing amino acid concentrations on tandem mass spectrometer in monitoring the treatment of tyrosinemia type 1
39. Mitochondrial encephalomyopathies in childhood; II. Clinical manifestations and syndromes
40. Mitochondrial encephalomyopathies in childhood; I. Biochemical and morphologic investigations
41. NONTRANSPLANT TREATMENT OF TYROSINEMIA
42. Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
43. Succinate‐CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
44. Uncoupling and isotope effects in γ-butyrobetaine hydroxylation
45. Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
46. Whole exome sequencing reveals mutations inNARS2andPARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
47. Disorders of Tyrosine Degradation
48. Carnitine deficiency induced by pivampicillin and pivmecillinam therapy
49. A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
50. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec
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