Poll-The BT - 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. 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. 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. 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. J Inherit Metab Dis. 1994;17(4):470-86. doi: 10.1007/BF00711362. J Inherit Metab Dis. 1994. PMID: 7967497 Review.

5

Formiminoglutamic/hydantoinpropionic aciduria in two siblings.

Duran M, Dorland L, Meuleman EE, Renardel de Lavalette PA, Poll-The BT, Berger R. Duran M, et al. J Inherit Metab Dis. 1993;16(1):155-6. doi: 10.1007/BF00711330. J Inherit Metab Dis. 1993. PMID: 8487495 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. Eur J Pediatr. 1994 Apr;153(4):264-6. doi: 10.1007/BF01954516. Eur J Pediatr. 1994. PMID: 8194560

7

Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Costa CG, de Almeida IT, Jakobs C, Duran M, Poll-The BT. Costa CG, et al. J Inherit Metab Dis. 1996;19(3):376-7. doi: 10.1007/BF01799275. J Inherit Metab Dis. 1996. PMID: 8803788 No abstract available.

8

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. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

9

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.

de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schryver J, Duran M, van den Berg IE, Gerwig GJ, Berger R, Poll-The BT. de Koning TJ, et al. Biochem Biophys Res Commun. 1998 Apr 7;245(1):38-42. doi: 10.1006/bbrc.1998.8385. Biochem Biophys Res Commun. 1998. PMID: 9535779

10

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R. Bergman AJ, et al. Hum Mutat. 1998;12(1):19-26. doi: 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3. Hum Mutat. 1998. PMID: 9633815

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