Smit GP - Search Results

1

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: smit gp. Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523. Hum Mol Genet. 1999. PMID: 10401001

2

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR. Ebberink MS, et al. Among authors: smit gp. J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778. J Med Genet. 2012. PMID: 22581968

3

The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.

Derks TG, Duran M, Waterham HR, Reijngoud DJ, Ten Kate LP, Smit GP. Derks TG, et al. Among authors: smit gp. Eur J Hum Genet. 2005 Aug;13(8):947-52. doi: 10.1038/sj.ejhg.5201428. Eur J Hum Genet. 2005. PMID: 15870827

4

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.

Gibson KM, Hoffmann G, Nyhan WL, Sweetman L, Berger R, le Coultre R, Smit GP. Gibson KM, et al. Among authors: smit gp. Eur J Pediatr. 1988 Dec;148(3):250-2. doi: 10.1007/BF00441413. Eur J Pediatr. 1988. PMID: 2850914

5

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Van Kuilenburg AB, et al. Among authors: smit lm, smit gp. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711. Hum Genet. 1999. PMID: 10071185 Review.

6

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.

Niezen-Koning KE, van Spronsen FJ, Ijlst L, Wanders RJ, Brivet M, Duran M, Reijngoud DJ, Heymans HS, Smit GP. Niezen-Koning KE, et al. Among authors: smit gp. J Inherit Metab Dis. 1995;18(2):230-2. doi: 10.1007/BF00711775. J Inherit Metab Dis. 1995. PMID: 7564255 No abstract available.

7

Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.

van Spronsen FJ, Berger R, Smit GP, de Klerk JB, Duran M, Bijleveld CM, van Faassen H, Slooff MJ, Heymans HS. van Spronsen FJ, et al. Among authors: smit gp. J Inherit Metab Dis. 1989;12 Suppl 2:339-42. doi: 10.1007/BF03335416. J Inherit Metab Dis. 1989. PMID: 2556611 Review. No abstract available.

8

The success of dietary protein restriction in alkaptonuria patients is age-dependent.

de Haas V, Carbasius Weber EC, de Klerk JB, Bakker HD, Smit GP, Huijbers WA, Duran M, Poll-The BT. de Haas V, et al. Among authors: smit gp. J Inherit Metab Dis. 1998 Dec;21(8):791-8. doi: 10.1023/a:1005410416482. J Inherit Metab Dis. 1998. PMID: 9870204

9

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

Touw CM, Smit GP, de Vries M, de Klerk JB, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJ, Waterham HR, Reijngoud DJ, Derks TG. Touw CM, et al. Among authors: smit gp. Orphanet J Rare Dis. 2012 May 25;7:30. doi: 10.1186/1750-1172-7-30. Orphanet J Rare Dis. 2012. PMID: 22630369 Free PMC article.

10

Abnormal glutathione conjugation in patients with tyrosinaemia type I.

Mulders TM, Bergman DJ, Poll-The BT, Smit GP, Breimer DD, Mulder GJ, Duran M, Smeitink JA. Mulders TM, et al. Among authors: smit gp. J Inherit Metab Dis. 1997 Aug;20(4):473-85. doi: 10.1023/a:1005385009831. J Inherit Metab Dis. 1997. PMID: 9266383

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