de Koning TJ - Search Results

1

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

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

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gozalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M. Spaapen LJ, et al. Among authors: de koning tj. J Inherit Metab Dis. 2001 Jun;24(3):352-8. doi: 10.1023/a:1010596317296. J Inherit Metab Dis. 2001. PMID: 11486900

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

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

7

Glutathione synthetase deficiency associated with antenatal cerebral bleeding.

Brüggemann LW, Groenendaal F, Ristoff E, Larsson A, Duran M, van Lier JA, Dorland L, Berger R, de Koning TJ. Brüggemann LW, et al. Among authors: de koning tj. J Inherit Metab Dis. 2004;27(2):275-6. doi: 10.1023/b:boli.0000028844.84760.a1. J Inherit Metab Dis. 2004. PMID: 15243982

8

Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.

Benninga MA, Lilien M, de Koning TJ, Duran M, Versteegh FG, Goldschmeding R, Poll-The BT. Benninga MA, et al. Among authors: de koning tj. J Inherit Metab Dis. 2007 Jun;30(3):402-3. doi: 10.1007/s10545-007-0446-9. Epub 2007 May 19. J Inherit Metab Dis. 2007. PMID: 17530437 Free article.

9

An update on serine deficiency disorders.

van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ. van der Crabben SN, et al. Among authors: de koning tj. J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6. J Inherit Metab Dis. 2013. PMID: 23463425

10

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.

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