de Koning TJ - Search Results

1

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.

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

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

5

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT. Houten SM, et al. Among authors: de barse mm, de koning tj. Nat Genet. 1999 Jun;22(2):175-7. doi: 10.1038/9691. Nat Genet. 1999. PMID: 10369261

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

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.

de Koning TJ, Duran M, Dorland L, Gooskens R, Van Schaftingen E, Jaeken J, Blau N, Berger R, Poll-The BT. de Koning TJ, et al. Ann Neurol. 1998 Aug;44(2):261-5. doi: 10.1002/ana.410440219. Ann Neurol. 1998. PMID: 9708551

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

Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency.

de Koning TJ, Nikkels PG, Dorland L, Bekhof J, De Schrijver JE, van Hattum J, van Diggelen OP, Duran M, Berger R, Poll-The BT. de Koning TJ, et al. Among authors: de schrijver je. Virchows Arch. 2000 Jul;437(1):101-5. doi: 10.1007/s004280000185. Virchows Arch. 2000. PMID: 10963387

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

177 results

Search Page

Filters