Wijburg FA - Search Results

1

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.

Huidekoper HH, Bosch AM, van der Crabben SN, Sauerwein HP, Ackermans MT, Wijburg FA. Huidekoper HH, et al. Among authors: wijburg fa. Mol Genet Metab. 2005 Mar;84(3):265-72. doi: 10.1016/j.ymgme.2004.09.013. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15694176

2

Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome.

Bosch AM, Sillevis Smitt JH, Van Gennip AH, Abeling NG, Schutgens RB, Bakker HD, Wijburg FA. Bosch AM, et al. Among authors: wijburg fa. Br J Dermatol. 1998 Sep;139(3):488-91. doi: 10.1046/j.1365-2133.1998.02415.x. Br J Dermatol. 1998. PMID: 9767296

3

Subnormal response of plasma glucose concentration to glucagon despite adequate glycogenolysis: the importance of kinetic measurements.

Sprangers F, Wijburg FA, Romijn JA, Ackermans MT, Hoekstra JH, Heymans HS, Sauerwein HP. Sprangers F, et al. Among authors: wijburg fa. Eur J Pediatr. 2001 Mar;160(3):185-8. doi: 10.1007/s004319900362. Eur J Pediatr. 2001. PMID: 11277381

4

Clinical features of galactokinase deficiency: a review of the literature.

Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA. Bosch AM, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2002 Dec;25(8):629-34. doi: 10.1023/a:1022875629436. J Inherit Metab Dis. 2002. PMID: 12705493 Review.

5

Living with classical galactosemia: health-related quality of life consequences.

Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF. Bosch AM, et al. Among authors: wijburg fa. Pediatrics. 2004 May;113(5):e423-8. doi: 10.1542/peds.113.5.e423. Pediatrics. 2004. PMID: 15121984

6

High tolerance for oral galactose in classical galactosaemia: dietary implications.

Bosch AM, Bakker HD, Wenniger-Prick LJ, Wanders RJ, Wijburg FA. Bosch AM, et al. Among authors: wijburg fa. Arch Dis Child. 2004 Nov;89(11):1034-6. doi: 10.1136/adc.2003.037671. Arch Dis Child. 2004. PMID: 15499058 Free PMC article.

7

Identification of novel mutations in classical galactosemia.

Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR. Bosch AM, et al. Among authors: wijburg fa. Hum Mutat. 2005 May;25(5):502. doi: 10.1002/humu.9330. Hum Mutat. 2005. PMID: 15841485

8

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase.

Oey NA, Ijlst L, van Roermund CW, Wijburg FA, Wanders RJ. Oey NA, et al. Among authors: wijburg fa. Mol Genet Metab. 2005 Jun;85(2):121-4. doi: 10.1016/j.ymgme.2005.02.012. Epub 2005 Apr 1. Mol Genet Metab. 2005. PMID: 15896656

9

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.

Spaan AN, Ijlst L, van Roermund CW, Wijburg FA, Wanders RJ, Waterham HR. Spaan AN, et al. Among authors: wijburg fa. Mol Genet Metab. 2005 Dec;86(4):441-7. doi: 10.1016/j.ymgme.2005.07.014. Epub 2005 Sep 13. Mol Genet Metab. 2005. PMID: 16165386

10

High incidence of hyperoxaluria in generalized peroxisomal disorders.

van Woerden CS, Groothoff JW, Wijburg FA, Duran M, Wanders RJ, Barth PG, Poll-The BT. van Woerden CS, et al. Among authors: wijburg fa. Mol Genet Metab. 2006 Aug;88(4):346-50. doi: 10.1016/j.ymgme.2006.03.004. Epub 2006 Apr 18. Mol Genet Metab. 2006. PMID: 16621644

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