Smeitink JA - Search Results

1

Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency.

de Valk HW, van Eeden MK, Banga JD, van der Griend R, de Groot E, Haas FJ, Meuwissen OJ, Duran M, Smeitink JA, Poll-The BT, de Klerk JB, Wittebol-Post D, Rolland MO. de Valk HW, et al. Among authors: smeitink ja. Stroke. 1996 Jun;27(6):1134-6. Stroke. 1996. PMID: 8650730 No abstract available.

2

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA. Ausems MG, et al. Among authors: smeitink ja. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

3

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.

Beekman RP, Hofstee N, Smeitink JA, Poll-The BT, Duran M. Beekman RP, et al. Among authors: smeitink ja. Eur J Pediatr. 1994 Apr;153(4):264-6. doi: 10.1007/BF01954516. Eur J Pediatr. 1994. PMID: 8194560

4

Cerebrospinal fluid organic acids in biotinidase deficiency.

Duran M, Baumgartner ER, Suormala TM, Bruinvis L, Dorland L, Smeitink JA, Poll-The BT. Duran M, et al. Among authors: smeitink ja. J Inherit Metab Dis. 1993;16(3):513-6. doi: 10.1007/BF00711668. J Inherit Metab Dis. 1993. PMID: 7609439 Clinical Trial. No abstract available.

5

Phenylpyruvate, fetal damage, and maternal phenylketonuria syndrome.

Dorland L, Poll-The BT, Duran M, Smeitink JA, Berger R. Dorland L, et al. Among authors: smeitink ja. Lancet. 1993 May 22;341(8856):1351-2. doi: 10.1016/0140-6736(93)90866-f. Lancet. 1993. PMID: 8098485 No abstract available.

6

Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.

Blau N, de Klerk JB, Thöny B, Heizmann CW, Kierat L, Smeitink JA, Duran M. Blau N, et al. Among authors: smeitink ja. Biochem Mol Med. 1996 Aug;58(2):199-203. doi: 10.1006/bmme.1996.0049. Biochem Mol Med. 1996. PMID: 8812740

7

Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency.

Bergman AJ, Donckerwolcke RA, Duran M, Smeitink JA, Mousson B, Vianey-Saban C, Poll-The BT. Bergman AJ, et al. Among authors: smeitink ja. Pediatr Res. 1994 Nov;36(5):582-8. doi: 10.1203/00006450-199411000-00007. Pediatr Res. 1994. PMID: 7877875 Review.

8

Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.

Bergman AJ, Van der Knaap MS, Smeitink JA, Duran M, Dorland L, Valk J, Poll-The BT. Bergman AJ, et al. Among authors: smeitink ja. Pediatr Res. 1996 Sep;40(3):404-9. doi: 10.1203/00006450-199609000-00007. Pediatr Res. 1996. PMID: 8865276 Review.

9

Sudden infant death associated with defective oxidative phosphorylation.

Smeitink JA, Fischer JC, Ruitenbeek W, Duran M, Hofkamp M, Bentlage HA, Poll-The BT. Smeitink JA, et al. Lancet. 1993 Jun 19;341(8860):1601. doi: 10.1016/0140-6736(93)90741-x. Lancet. 1993. PMID: 8099679 No abstract available.

10

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.

Barth PG, Majoie CB, Gootjes J, Wanders RJ, Waterham HR, van der Knaap MS, de Klerk JB, Smeitink J, Poll-The BT. Barth PG, et al. Neurology. 2004 Feb 10;62(3):439-44. doi: 10.1212/01.wnl.0000106943.40848.03. Neurology. 2004. PMID: 14872027

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