Grunewald S - Search Results

1

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Ng BG, et al. Among authors: grunewald s. J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5. J Inherit Metab Dis. 2020. PMID: 32681751 Free PMC article.

2

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

3

Cytochrome oxidase deficiency in Lowe syndrome.

Cifelli PM, Hargreaves I, Grünewald S. Cifelli PM, et al. Among authors: grunewald s. J Inherit Metab Dis. 2002 Sep;25(5):411-2. doi: 10.1023/a:1020112119716. J Inherit Metab Dis. 2002. PMID: 12408191

4

Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).

Grünewald S, De Vos R, Jaeken J. Grünewald S, et al. J Inherit Metab Dis. 2003;26(1):49-54. doi: 10.1023/a:1024023429680. J Inherit Metab Dis. 2003. PMID: 12872840

5

Defective protein glycosylation in patients with cutis laxa syndrome.

Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grünewald S. Morava E, et al. Among authors: grunewald s. Eur J Hum Genet. 2005 Apr;13(4):414-21. doi: 10.1038/sj.ejhg.5201361. Eur J Hum Genet. 2005. PMID: 15657616

6

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Wopereis S, Morava E, Grünewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA. Wopereis S, et al. Among authors: grunewald s. Biochim Biophys Acta. 2005 Jun 30;1741(1-2):156-64. doi: 10.1016/j.bbadis.2004.11.009. Epub 2004 Dec 9. Biochim Biophys Acta. 2005. PMID: 15955459 Free article.

7

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.

Wopereis S, Morava E, Grünewald S, Adamowicz M, Huijben KM, Lefeber DJ, Wevers RA. Wopereis S, et al. Among authors: grunewald s. Glycobiology. 2005 Dec;15(12):1312-9. doi: 10.1093/glycob/cwj017. Epub 2005 Jul 21. Glycobiology. 2005. PMID: 16037491

8

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).

Jackson M, Clayton P, Grunewald S, Keir G, Mills K, Mills P, Winchester B, Worthington V, Young E. Jackson M, et al. Among authors: grunewald s. J Inherit Metab Dis. 2005;28(6):1197-8. doi: 10.1007/s10545-005-0157-z. J Inherit Metab Dis. 2005. PMID: 16435229

9

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.

Wopereis S, Grünewald S, Huijben KM, Morava E, Mollicone R, van Engelen BG, Lefeber DJ, Wevers RA. Wopereis S, et al. Among authors: grunewald s. Clin Chem. 2007 Feb;53(2):180-7. doi: 10.1373/clinchem.2006.073940. Epub 2006 Dec 14. Clin Chem. 2007. PMID: 17170056

10

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.

Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Zwickler T, et al. Among authors: grunewald s. J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2. Epub 2008 May 27. J Inherit Metab Dis. 2008. PMID: 18563634

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