Grünewald S - Search Results

1

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

Drouin-Garraud V, Belgrand M, Grünewald S, Seta N, Dacher JN, Hénocq A, Matthijs G, Cormier-Daire V, Frébourg T, Saugier-Veber P. Drouin-Garraud V, et al. Among authors: grunewald s. Am J Med Genet. 2001 Jun 1;101(1):46-9. doi: 10.1002/ajmg.1298. Am J Med Genet. 2001. PMID: 11343337

2

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.

Pirard M, Matthijs G, Heykants L, Schollen E, Grünewald S, Jaeken J, van Schaftingen E. Pirard M, et al. Among authors: grunewald s. FEBS Lett. 1999 Jun 11;452(3):319-22. doi: 10.1016/s0014-5793(99)00673-0. FEBS Lett. 1999. PMID: 10386614 Free article.

3

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

Matthijs G, Schollen E, Heykants L, Grünewald S. Matthijs G, et al. Among authors: grunewald s. Mol Genet Metab. 1999 Oct;68(2):220-6. doi: 10.1006/mgme.1999.2914. Mol Genet Metab. 1999. PMID: 10527672 Review. No abstract available.

4

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.

Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie NM, King MD, Jaeken J, Matthijs G, Berger EG, Aebi M, Hennet T. Imbach T, et al. Among authors: grunewald s. J Clin Invest. 2000 Jan;105(2):233-9. doi: 10.1172/JCI8691. J Clin Invest. 2000. PMID: 10642602 Free PMC article.

5

Congenital disorders of glycosylation (CDG): a rapidly expanding group of neurometabolic disorders.

Grünewald S, Matthijs G. Grünewald S, et al. Neuropediatrics. 2000 Apr;31(2):57-9. doi: 10.1055/s-2000-7487. Neuropediatrics. 2000. PMID: 10832577 Review. No abstract available.

6

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

Grünewald S, Imbach T, Huijben K, Rubio-Gozalbo ME, Verrips A, de Klerk JB, Stroink H, de Rijk-van Andel JF, Van Hove JL, Wendel U, Matthijs G, Hennet T, Jaeken J, Wevers RA. Grünewald S, et al. Ann Neurol. 2000 Jun;47(6):776-81. Ann Neurol. 2000. PMID: 10852543

7

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

Imbach T, Grünewald S, Schenk B, Burda P, Schollen E, Wevers RA, Jaeken J, de Klerk JB, Berger EG, Matthijs G, Aebi M, Hennet T. Imbach T, et al. Among authors: grunewald s. Hum Genet. 2000 May;106(5):538-45. doi: 10.1007/s004390000293. Hum Genet. 2000. PMID: 10914684

8

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. 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.

9

Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2.

Heykants L, Schollen E, Grünewald S, Matthijs G. Heykants L, et al. Among authors: grunewald s. Gene. 2001 May 30;270(1-2):53-9. doi: 10.1016/s0378-1119(01)00481-4. Gene. 2001. PMID: 11404002

10

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH. Westphal V, et al. Among authors: grunewald s. Hum Mol Genet. 2002 Mar 1;11(5):599-604. doi: 10.1093/hmg/11.5.599. Hum Mol Genet. 2002. PMID: 11875054

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