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Inherited metabolic diseases and pregnancy.
Spronsen FJ, Smit GP, Erwich JJ. Spronsen FJ, et al. BJOG. 2005 Jan;112(1):2-11. doi: 10.1111/j.1471-0528.2004.00297.x. BJOG. 2005. PMID: 15663391 Review. No abstract available.
[Inherited metabolic diseases and pregnancy: consequences for mother and child].
van Spronsen FJ, Molendijk H, Erwich JJ, Smit GP. van Spronsen FJ, et al. Ned Tijdschr Geneeskd. 2003 Feb 8;147(6):235-40. Ned Tijdschr Geneeskd. 2003. PMID: 12621977 Review. Dutch.
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.
Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham HR, Niezen-Koning KE, Wanders RJ, Rondeel JM, Loeber JG, Ten Kate LP, Smit GP, Reijngoud DJ. Derks TG, et al. J Inherit Metab Dis. 2008 Feb;31(1):88-96. doi: 10.1007/s10545-007-0492-3. Epub 2008 Jan 14. J Inherit Metab Dis. 2008. PMID: 18188679
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. J Inherit Metab Dis. 1995;18(2):111-4. doi: 10.1007/BF00711742. J Inherit Metab Dis. 1995. PMID: 7564222 No abstract available.
Liver transplantation in tyrosinaemia type I: the Groningen experience.
Wijburg FA, Reitsma WC, Slooff MJ, van Spronsen FJ, Koetse HA, Reijngoud DJ, Smit GP, Berger R, Bijleveld CM. Wijburg FA, et al. J Inherit Metab Dis. 1995;18(2):115-8. doi: 10.1007/BF00711743. J Inherit Metab Dis. 1995. PMID: 7564223 No abstract available.
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. Eur J Pediatr. 2000 Dec;159(12):901-4. doi: 10.1007/pl00008366. Eur J Pediatr. 2000. PMID: 11131348
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. Eur J Pediatr. 1997 Nov;156(11):870-3. doi: 10.1007/s004310050733. Eur J Pediatr. 1997. PMID: 9392403 Review.
Hereditary tyrosinaemia type I: a long-term study of the relationship between the urinary excretions of succinylacetone and delta-aminolevulinic acid.
Schierbeek H, Beukeveld GJ, van Faassen H, van Spronsen FJ, Bijsterveld K, Venekamp-Hoolsema EE, Wolthers BG, Smit GP. Schierbeek H, et al. J Inherit Metab Dis. 1993;16(6):1034-40. doi: 10.1007/BF00711521. J Inherit Metab Dis. 1993. PMID: 8127053
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