Van Schaftingen E - Search Results

1

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E. Jaeken J, et al. Among authors: van schaftingen e, van maldergem l. Arch Dis Child. 1996 Jun;74(6):542-5. doi: 10.1136/adc.74.6.542. Arch Dis Child. 1996. PMID: 8758134 Free PMC article.

2

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.

Jaeken J, Detheux M, Van Maldergem L, Frijns JP, Alliet P, Foulon M, Carchon H, Van Schaftingen E. Jaeken J, et al. Among authors: van schaftingen e, van maldergem l. J Inherit Metab Dis. 1996;19(2):223-6. doi: 10.1007/BF01799435. J Inherit Metab Dis. 1996. PMID: 8739971 No abstract available.

3

Phosphoserine phosphatase deficiency in a patient with Williams syndrome.

Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E. Jaeken J, et al. Among authors: van schaftingen e. J Med Genet. 1997 Jul;34(7):594-6. doi: 10.1136/jmg.34.7.594. J Med Genet. 1997. PMID: 9222972 Free PMC article.

4

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. Among authors: van schaftingen e. Ann Neurol. 1998 Aug;44(2):261-5. doi: 10.1002/ana.410440219. Ann Neurol. 1998. PMID: 9708551

5

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.

Pineda M, Vilaseca MA, Artuch R, Santos S, García González MM, Aracil A, Van Schaftingen E, Jaeken J. Pineda M, et al. Among authors: van schaftingen e. Dev Med Child Neurol. 2000 Sep;42(9):629-33. doi: 10.1017/s0012162200001171. Dev Med Child Neurol. 2000. PMID: 11034457 Free article.

6

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G. Grünewald S, et al. Among authors: van schaftingen e. Am J Hum Genet. 2001 Feb;68(2):347-54. doi: 10.1086/318199. Epub 2001 Jan 11. Am J Hum Genet. 2001. PMID: 11156536 Free PMC article.

7

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

Van Schaftingen E, Jaeken J. Van Schaftingen E, et al. FEBS Lett. 1995 Dec 27;377(3):318-20. doi: 10.1016/0014-5793(95)01357-1. FEBS Lett. 1995. PMID: 8549746 Free article.

8

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

Carchon H, Van Schaftingen E, Matthijs G, Jaeken J. Carchon H, et al. Among authors: van schaftingen e. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):155-65. doi: 10.1016/s0925-4439(99)00073-3. Biochim Biophys Acta. 1999. PMID: 10571009 Free article. Review.

9

Heterologous expression of an active rat regulatory protein of glucokinase.

Detheux M, Van Schaftingen E. Detheux M, et al. Among authors: van schaftingen e. FEBS Lett. 1994 Nov 21;355(1):27-9. doi: 10.1016/0014-5793(94)01160-5. FEBS Lett. 1994. PMID: 7957955 Free article.

10

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: van schaftingen e. 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.

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