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au.\*:("VAN DEN HEUVEL, L. P")

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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

Biotechnological challenges of bioartificial kidney engineeringJANSEN, J; FEDECOSTANTE, M; WILMER, M. J et al.Biotechnology advances. 2014, Vol 32, Num 7, pp 1317-1327, issn 0734-9750, 11 p.Article

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis―a reviewLÖWIK, M. M; GROENEN, P. J; LEVTCHENKO, E. N et al.European journal of pediatrics. 2009, Vol 168, Num 11, pp 1291-1304, issn 0340-6199, 14 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

Fatal hypertensive crisis as presentation of mitochondrial complex I deficiencyLOHMEIER, K; DISTELMAIER, F; VAN DEN HEUVEL, L. P et al.Neuropediatrics. 2007, Vol 38, Num 3, pp 148-150, issn 0174-304X, 3 p.Article

Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosisLÖWIK, M. M; HOL, F. A; STEENBERGEN, E. J et al.Nephrology, dialysis, transplantation (Print). 2005, Vol 20, Num 2, pp 336-341, issn 0931-0509, 6 p.Article

Inhibition of DNA methylation in malignant MOLT F4 lymphoblasts by 6-mercaptopurineLAMBOOY, L. H. J; LEEGWATER, P. A. J; VAN DEN HEUVEL, L. P et al.Clinical chemistry (Baltimore, Md.). 1998, Vol 44, Num 3, pp 556-559, issn 0009-9147Article

WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosisLÖWIK, M. M; LEVTCHENKO, E. N; MONNENS, L. A. H et al.Clinical nephrology. 2003, Vol 59, Num 2, pp 143-146, issn 0301-0430, 4 p.Article

MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency and NDUFV1 Mutations and Mild Clinical CourseZAFEIRIOU, D. I; RODENBURG, R. J. T; SCHEFFER, H et al.Neuropediatrics. 2008, Vol 39, Num 3, pp 172-175, issn 0174-304X, 4 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

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

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

A COL4A3 gene mutation and post-transplant anti-α3(IV) collagen alloantibodies in Alport syndromeKALLURI, R; VAN DEN HEUVEL, L. P; SMEETS, H. J. M et al.Kidney international. 1995, Vol 47, Num 4, pp 1199-1204, issn 0085-2538Conference Paper

Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. CommentaryAKILESH, S; KOZIELL, A; MONNENS, L. A et al.Kidney international. 2007, Vol 72, Num 10, issn 0085-2538, 1181-1183, 1198-1203 [9 p.]Article

Syndecan-1 deficiency aggravates anti-glomerular basement membrane nephritisROPS, A. L; GÖTTE, M; BERDEN, J. H et al.Kidney international. 2007, Vol 72, Num 10, pp 1204-1215, issn 0085-2538, 12 p.Article

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome : Progress reportCOENEN, M. J. H; SMEITINK, J. A. M; FARHOUD, M. H et al.Journal of inherited metabolic disease. 2006, Vol 29, Num 1, pp 212-213, issn 0141-8955, 2 p.Article

Respiratory chain Complex I deficiencyTRIEPELS, R. H; VAN DEN HEUVEL, L. P; TRIJBELS, J. M et al.American journal of medical genetics. 2001, Vol 106, Num 1, pp 37-45, issn 0148-7299Article

Deficiency of the voltage-dependent anion channel : A novel cause of mitochondriopathyHUIZING, M; RUITTENBEEK, W; THINNES, F. P et al.Pediatric research. 1996, Vol 39, Num 5, pp 760-765, issn 0031-3998Article

Heparan sulfate domains on cultured activated glomerular endothelial cells mediate leukocyte traffickingROPS, A. L; VAN DEN HOVEN, M. J; BASELMANS, M. M et al.Kidney international. 2008, Vol 73, Num 1, pp 52-62, issn 0085-2538, 11 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

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

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

Decreased methylene tetrahydrofolate reductase activity due to the 677C→T mutation in families with spina bifida offspringVAN DER PUT, N. M. J; VAN DEN HEUVEL, L. P; STEEGERS-THEUNISSEN, R. P. M et al.Journal of molecular medicine (Berlin. Print). 1996, Vol 74, Num 11, pp 691-694, issn 0946-2716Article

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductaseFROSST, P; BLOM, H. J; ROZEN, R et al.Nature genetics. 1995, Vol 10, Num 1, pp 111-113, issn 1061-4036Article

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