de Koning TJ - Search Results

1

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.

2

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.

3

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. Among authors: de schryver j, de jong gj. Biochem Biophys Res Commun. 1998 Apr 7;245(1):38-42. doi: 10.1006/bbrc.1998.8385. Biochem Biophys Res Commun. 1998. PMID: 9535779

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

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

6

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.

7

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

8

Pontocerebellar hypoplasia associated with respiratory-chain defects.

de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG. de Koning TJ, et al. Among authors: de vries ls. Neuropediatrics. 1999 Apr;30(2):93-5. doi: 10.1055/s-2007-973467. Neuropediatrics. 1999. PMID: 10401692

9

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.

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

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