Smeitink JA - Search Results

1

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.

2

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.

3

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.

4

Peroxisomal disorders: a review.

Fournier B, Smeitink JA, Dorland L, Berger R, Saudubray JM, Poll-The BT. Fournier B, et al. Among authors: smeitink ja. J Inherit Metab Dis. 1994;17(4):470-86. doi: 10.1007/BF00711362. J Inherit Metab Dis. 1994. PMID: 7967497 Review.

5

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.

Smeitink JA, Beemer FA, Espeel M, Donckerwolcke RA, Jakobs C, Wanders RJ, Schutgens RB, Roels F, Duran M, Dorland L, et al. Smeitink JA, et al. J Inherit Metab Dis. 1992;15(3):377-80. doi: 10.1007/BF02435981. J Inherit Metab Dis. 1992. PMID: 1405474 No abstract available.

6

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

7

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.

8

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

van den Berg IE, van Beurden EA, Malingré HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R. van den Berg IE, et al. Among authors: smeitink ja. Am J Hum Genet. 1995 Feb;56(2):381-7. Am J Hum Genet. 1995. PMID: 7847371 Free PMC article.

9

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK. van der Sijs-Bos CJ, et al. Among authors: smeitink ja. Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351. Hum Hered. 1996. PMID: 8807319

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: smeitink ja. 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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