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Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiencyHINTTALA, R; SMEETS, R; MOILANEN, J. S et al.Journal of medical genetics. 2006, Vol 43, Num 11, pp 881-886, issn 0022-2593, 6 p.Article

Mitochondrial disease criteria : Diagnostic applications in childrenMORAVA, E; VAN DEN HEUVEL, L; HOL, F et al.Neurology. 2006, Vol 67, Num 10, pp 1823-1826, issn 0028-3878, 4 p.Article

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex IBUDDE, S. M. S; VAN DEN HEUVEL, L. P. W. J; SMEETS, R. J. P et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 8, pp 813-815, issn 0141-8955, 3 p.Article

Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiencyNIERS, L. E. M; SMEITINK, J. A. M; TRIJBELS, J. M. F et al.Prenatal diagnosis. 2001, Vol 21, Num 10, pp 871-880, issn 0197-3851Article

Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milkVAN DEN HOUT, J. M. P; REUSER, A. J. J; DE KLERK, J. B. C et al.Journal of inherited metabolic disease. 2001, Vol 24, Num 2, pp 266-274, issn 0141-8955Conference Paper

A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathyRUBIO-GOZALBO, M. E; SENGERS, R. C. A; TRIJBELS, J. M. F et al.Neuropediatrics. 2000, Vol 31, Num 3, pp 114-121, issn 0174-304XArticle

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiencyVAN KUILENBURG, A. B. P; VREKEN, P; CHRISTENSEN, E et al.Human genetics. 1999, Vol 104, Num 1, pp 1-9, issn 0340-6717Article

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex ITRIEPELS, R. H; VAN DEN HEUVEL, L. P; TRIJBELS, J. M. F et al.Annals of neurology. 1999, Vol 45, Num 6, pp 787-790, issn 0364-5134Article

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiencyRUBIO-GOZALBO, M. E; SMEITINK, J. A. M; RUITENBEEK, W et al.Neurology. 1999, Vol 52, Num 2, pp 383-386, issn 0028-3878Article

Altered folate and vitamin B12 metabolism in families with spina bifida offspringVAN DER PUT, N. M. J; THOMAS, C. M. G; ESKES, T. K. A. B et al.QJM (Oxford. 1994. Print). 1997, Vol 90, Num 8, pp 505-510, issn 1460-2725Article

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiencyBEEKMAN, R. P; HOFSTEE, N; SMEITINK, J. A. M et al.European journal of pediatrics. 1994, Vol 153, Num 4, pp 264-266, issn 0340-6199Article

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 casesKOENE, S; RODENBURG, R. J; FLETCHER, J et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 5, pp 737-747, issn 0141-8955, 11 p.Article

Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and PIPEP) for combined deficiencies in the oxidative phosphorylation systemCOENEN, M. J. H; SMEITINK, J. A. M; SMEETS, R et al.Journal of inherited metabolic disease. 2005, Vol 28, Num 6, pp 1091-1097, issn 0141-8955, 7 p.Article

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhoodROELEVELD-VERSTEEGH, A. B. C; BRAUN, K. P. J; SMEITINK, J. A. M et al.Journal of inherited metabolic disease. 2004, Vol 27, Num 2, pp 281-283, issn 0141-8955, 3 p.Article

Human mitochondrial complex I deficiency: Investigating transcriptional responses by microarrayVAN DER WESTHUIZEN, F. H; VAN DEN HEUVEL, L. P; SMEETS, R et al.Neuropediatrics. 2003, Vol 34, Num 1, pp 14-22, issn 0174-304X, 9 p.Article

Some practical aspects of providing a diagnostic service for respiratory chain defectsJANSSEN, A. J. M; SMEITINK, J. A. M; VAN DEN HEUVEL, L. P et al.Annals of clinical biochemistry. 2003, Vol 40, pp 3-8, issn 0004-5632, 6 p., 1Article

New pattern of brain MRI lesions in isolated complex I deficiencyWOLF, N. I; SEITZ, A; HARTING, I et al.Neuropediatrics. 2003, Vol 34, Num 3, pp 156-159, issn 0174-304X, 4 p.Article

Tyrosine hydroxylase deficiency with severe clinical course : Clinical and biochemical investigations and optimization of therapyDIONISI-VICI, C; HOFFMANN, G. F; LEUZZI, V et al.The Journal of pediatrics. 2000, Vol 136, Num 4, pp 560-562, issn 0022-3476Article

D-2-hydroxyglutaric aciduria : Biochemical marker or clinical disease entity ?VAN DER KNAAP, M. S; JAKOBS, C; BOWE, C. M et al.Annals of neurology. 1999, Vol 45, Num 1, pp 111-119, issn 0364-5134Article

Carnitine-acylcarnitine carrier deficiency : Identification of the molecular defect in a patientHUIZING, M; WENDEL, U; TRIJBELS, J. M. F et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 3, pp 262-267, issn 0141-8955Article

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutationVAN DIGGELEN, O. P; ZAREMBA, J; ROKICKI, D et al.Clinical genetics. 1996, Vol 50, Num 5, pp 310-316, issn 0009-9163Article

Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonatesSPERL, W; SENGERS, R. C. A; TRIJBELS, J. M. F et al.Annals of clinical biochemistry. 1992, Vol 29, pp 638-645, issn 0004-5632, 6Article

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathySMEITINK, J. A. M; SENGERS, R. C. A; TRIJBELS, J. M. F et al.European journal of pediatrics. 1989, Vol 148, Num 7, pp 656-659, issn 0340-6199, 4 p.Conference Paper

Mitochondrial dysfunction in a patient with joubert syndromeMORAVA, E; DINOPOULOS, A; KROES, H. Y et al.Neuropediatrics. 2005, Vol 36, Num 3, pp 214-217, issn 0174-304X, 4 p.Article

Infantile presentation of the mtDNA A3243G tRNALeu(UUR) mutationOKHUIJSEN-KROES, E. J; TRIJBELS, J. M. F; SENGERS, R. C. A et al.Neuropediatrics. 2001, Vol 32, Num 4, pp 183-190, issn 0174-304XArticle

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