Smit GP - Search Results

1

Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.

Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP. Niezen-Koning KE, et al. Among authors: smit gp. Eur J Pediatr. 1997 Nov;156(11):870-3. doi: 10.1007/s004310050733. Eur J Pediatr. 1997. PMID: 9392403 Review.

2

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

Derks TG, Reijngoud DJ, Waterham HR, Gerver WJ, van den Berg MP, Sauer PJ, Smit GP. Derks TG, et al. Among authors: smit gp. J Pediatr. 2006 May;148(5):665-670. doi: 10.1016/j.jpeds.2005.12.028. J Pediatr. 2006. PMID: 16737882

3

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.

4

End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation.

Rake JP, van Spronsen FJ, Visser G, Ruitenbeek W, Schweizer JJ, Bijleveld CM, Peeters PM, de Jong KP, Slooff MJ, Reijngoud DJ, Niezen-Koning KE, Smit GP. Rake JP, et al. Among authors: smit gp. Eur J Pediatr. 2000 Jul;159(7):523-6. doi: 10.1007/s004310051324. Eur J Pediatr. 2000. PMID: 10923228

5

3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.

Visser G, Suormala T, Smit GP, Reijngoud DJ, Bink-Boelkens MT, Niezen-Koning KE, Baumgartner ER. Visser G, et al. Among authors: smit gp. Eur J Pediatr. 2000 Dec;159(12):901-4. doi: 10.1007/pl00008366. Eur J Pediatr. 2000. PMID: 11131348

6

Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.

van der Hilst CS, Derks TG, Reijngoud DJ, Smit GP, TenVergert EM. van der Hilst CS, et al. Among authors: smit gp. J Pediatr. 2007 Aug;151(2):115-20, 120.e1-3. doi: 10.1016/j.jpeds.2007.03.013. J Pediatr. 2007. PMID: 17643759

7

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.

8

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.

Touw CM, Smit GP, Niezen-Koning KE, Bosgraaf-de Boer C, Gerding A, Reijngoud DJ, Derks TG. Touw CM, et al. Among authors: smit gp. Orphanet J Rare Dis. 2013 Mar 20;8:43. doi: 10.1186/1750-1172-8-43. Orphanet J Rare Dis. 2013. PMID: 23509891 Free PMC article.

9

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

10

Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation.

van Spronsen FJ, Smit GP, Wijburg FA, Thomasse Y, Visser G, Heymans HS. van Spronsen FJ, et al. Among authors: smit gp. J Inherit Metab Dis. 1995;18(2):111-4. doi: 10.1007/BF00711742. J Inherit Metab Dis. 1995. PMID: 7564222 No abstract available.

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