Shin YS - Search Results

1

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Tegtmeyer LC, et al. Among authors: shin ys. N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605. N Engl J Med. 2014. PMID: 24499211 Free PMC article.

2

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.

Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M. Okubo M, et al. Among authors: shin ys. Clin Chim Acta. 2015 Jan 15;439:162-7. doi: 10.1016/j.cca.2014.10.016. Epub 2014 Oct 23. Clin Chim Acta. 2015. PMID: 25451950

3

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.

Schoser B, Bruno C, Schneider HC, Shin YS, Podskarbi T, Goldfarb L, Müller-Felber W, Müller-Höcker J. Schoser B, et al. Among authors: shin ys. Mol Genet Metab. 2008 Sep-Oct;95(1-2):52-8. doi: 10.1016/j.ymgme.2008.07.005. Epub 2008 Aug 8. Mol Genet Metab. 2008. PMID: 18691923 Free PMC article.

4

Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.

Kono JO, Podskarbi T, Shin Y, Lanzl I. Kono JO, et al. Cornea. 2003 Mar;22(2):175-7. doi: 10.1097/00003226-200303000-00020. Cornea. 2003. PMID: 12605057

5

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M. Aoyama Y, et al. Among authors: shin ys. J Hum Genet. 2009 Nov;54(11):681-6. doi: 10.1038/jhg.2009.100. Epub 2009 Oct 16. J Hum Genet. 2009. PMID: 19834502

6

Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.

Endo Y, Fateen E, El Shabrawy M, Aoyama Y, Ebara T, Murase T, Podskarbi T, Shin YS, Okubo M. Endo Y, et al. Among authors: shin ys. Clin Chem Lab Med. 2009;47(10):1233-8. doi: 10.1515/CCLM.2009.281. Clin Chem Lab Med. 2009. PMID: 19754354

7

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M. Endo Y, et al. Among authors: shin ys. J Hum Genet. 2006;51(11):958-963. doi: 10.1007/s10038-006-0045-x. Epub 2006 Sep 19. J Hum Genet. 2006. PMID: 17047887

8

Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.

Aoyama Y, Endo Y, Ebara T, Murase T, Shin YS, Podskarbi T, Ozer I, Demirkol M, Gökçay G, Okubo M. Aoyama Y, et al. Among authors: shin ys. Pediatr Int. 2010 Feb;52(1):145-7. doi: 10.1111/j.1442-200X.2009.02943.x. Pediatr Int. 2010. PMID: 20158661 No abstract available.

9

Delayed or late-onset type II glycogenosis with globular inclusions.

Sharma MC, Schultze C, von Moers A, Stoltenburg-Didinger G, Shin YS, Podskarbi T, Isenhardt K, Tews DS, Goebel HH. Sharma MC, et al. Among authors: shin ys. Acta Neuropathol. 2005 Aug;110(2):151-7. doi: 10.1007/s00401-005-1026-4. Epub 2005 Jun 29. Acta Neuropathol. 2005. PMID: 15986226

10

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B. Müller-Felber W, et al. Neuromuscul Disord. 2007 Oct;17(9-10):698-706. doi: 10.1016/j.nmd.2007.06.002. Epub 2007 Jul 23. Neuromuscul Disord. 2007. PMID: 17643989

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