de Koning TJ - Search Results

1

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E. Jaeken J, et al. Among authors: de rijk van andel jf, de koning tj. J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477. J Inherit Metab Dis. 1997. PMID: 9266378 Clinical Trial. No abstract available.

2

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.

de Koning TJ, Toet M, Dorland L, de Vries LS, van den Berg IE, Duran M, Poll-The BT. de Koning TJ, et al. Among authors: de vries ls. J Inherit Metab Dis. 1998 Aug;21(6):681-2. doi: 10.1023/a:1005496920435. J Inherit Metab Dis. 1998. PMID: 9762608 No abstract available.

3

Hyperketonaemia in glycerol kinase deficiency.

Sjarif DR, Dorland L, Sperl W, de Koning TJ, Beemer FA, Poll-The BT, Duran M. Sjarif DR, et al. Among authors: de koning tj. J Inherit Metab Dis. 2000 Nov;23(7):760-4. doi: 10.1023/a:1005680211483. J Inherit Metab Dis. 2000. PMID: 11117440 No abstract available.

4

Alterations of hepatic peroxisomes in tyrosinaemia type I: return to fetal type?

Kerckaert I, de Koning TJ, Poll-The BT, Roels F. Kerckaert I, et al. Among authors: de koning tj. J Inherit Metab Dis. 1998 Jun;21(3):186-90. doi: 10.1023/a:1005351129336. J Inherit Metab Dis. 1998. PMID: 9686353 No abstract available.

5

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.

De Koning TJ, Duran M, Van Maldergem L, Pineda M, Dorland L, Gooskens R, Jaeken J, Poll-The BT. De Koning TJ, et al. J Inherit Metab Dis. 2002 May;25(2):119-25. doi: 10.1023/a:1015624726822. J Inherit Metab Dis. 2002. PMID: 12118526

6

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Veiga-da-Cunha M, Verhoeven-Duif NM, de Koning TJ, Duran M, Dorland B, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: de koning tj. J Inherit Metab Dis. 2013 Nov;36(6):961-6. doi: 10.1007/s10545-012-9568-9. Epub 2012 Dec 14. J Inherit Metab Dis. 2013. PMID: 23242558

7

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT. Cleary MA, et al. Among authors: de koning tj. J Inherit Metab Dis. 2005;28(5):673-9. doi: 10.1007/s10545-005-0074-1. J Inherit Metab Dis. 2005. PMID: 16151897

8

Plasma pipecolic acid is frequently elevated in non-peroxisomal disease.

Baas JC, van de Laar R, Dorland L, Duran M, Berger R, Poll-The BT, de Koning TJ. Baas JC, et al. Among authors: de koning tj. J Inherit Metab Dis. 2002 Dec;25(8):699-701. doi: 10.1023/a:1022889400302. J Inherit Metab Dis. 2002. PMID: 12705501

9

Continuing education in neurometabolic disorders--serine deficiency disorders.

de Koning TJ, Poll-The BT, Jaeken J. de Koning TJ, et al. Neuropediatrics. 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. Neuropediatrics. 1999. PMID: 10222452 Review.

10

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

Poll-The BT, Frenkel J, Houten SM, Kuis W, Duran M, de Koning TJ, Dorland L, de Barse MM, Romeijn GJ, Wanders RJ, Waterham HR. Poll-The BT, et al. Among authors: de barse mm, de koning tj. J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364. J Inherit Metab Dis. 2000. PMID: 10896295 No abstract available.

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