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Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations.
Schmidt D, Shin YS, Auw-Haedrich C, Tacke U. Schmidt D, et al. Acta Ophthalmol. 2011 Aug;89(5):489-94. doi: 10.1111/j.1755-3768.2009.01691.x. Epub 2010 Mar 10. Acta Ophthalmol. 2011. PMID: 20222886 Free article.
Blood examination was carried out in a laboratory specializing in investigation into genetic diseases (Dr Podskarbi, Munich). RESULTS: Two brothers and one sister suffered from cataract-induced visual deterioration at 38, 34 and 35 years of age, respectively. ...The 35-yea …
Blood examination was carried out in a laboratory specializing in investigation into genetic diseases (Dr Podskarbi, Munich). RESULTS …
Long survival in Leigh syndrome: new cases and review of literature.
Aulbert W, Weigt-Usinger K, Thiels C, Köhler C, Vorgerd M, Schreiner A, Hoffjan S, Rothoeft T, Wortmann SB, Heyer CM, Podskarbi T, Lücke T. Aulbert W, et al. Neuropediatrics. 2014 Dec;45(6):346-53. doi: 10.1055/s-0034-1383823. Epub 2014 Aug 11. Neuropediatrics. 2014. PMID: 25111564 Review.
The clinical course is dominated by neurodevelopmental regression, brain stem, and basal ganglia involvement (e.g., dystonia, apnea) with death often occurring before the age of 10 years. ...
The clinical course is dominated by neurodevelopmental regression, brain stem, and basal ganglia involvement (e.g., dystonia, apnea) …
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. 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
RESULTS: Twelve different mutations were identified: 7 novel AGL mutations [69-base pair deletion (c.1056_1082+42del69), 21-base par deletion (c.3940_3949+11del21), two small duplications (c.364_365dupCT and c.1497_1500dupAGAG), and 3 splicing mutations (c.1736-11A>G, c …
RESULTS: Twelve different mutations were identified: 7 novel AGL mutations [69-base pair deletion (c.1056_1082+42del69), 21-base par deletio …
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. Acta Neuropathol. 2005 Aug;110(2):151-7. doi: 10.1007/s00401-005-1026-4. Epub 2005 Jun 29. Acta Neuropathol. 2005. PMID: 15986226
Molecular genetic analysis of the GAA gene revealed disease-causing mutations in each patient: H568L/R672W, IVS1-13T>G/G615F, and IVS1-13T>G/IVS1-13T>G. Although only one patient with such globular inclusions has been reported up to now, the three pa …
Molecular genetic analysis of the GAA gene revealed disease-causing mutations in each patient: H568L/R672W, IVS1-13T>G/G615F, and …
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. 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
In this study, we examined 23 patients of Turkish ancestry and identified a novel missense mutation p.R1147G with isolated glucosidase deficiency, along with nine AGL mutations: six nonsense mutations (p.W373X, p.R595X, p.Q667X, p.Q1205X, p.W1327X and p.Q1376X), one deletion (c.1 …
In this study, we examined 23 patients of Turkish ancestry and identified a novel missense mutation p.R1147G with isolated glucosidase defic …
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. 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.
Furthermore, GBE1, PRKAG2, desmin, alphabeta-crystallin, ZASP, myotilin, and LAMP-2 gene sequencing revealed no mutation, excluding e.g. glycogen storage disease type 4 and desmin-related myofibrillar cardiomyopathies. ...
Furthermore, GBE1, PRKAG2, desmin, alphabeta-crystallin, ZASP, myotilin, and LAMP-2 gene sequencing revealed no mutation, excluding e.g …
Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
Schuster V, Podskarbi T, Ottensmeier H, Haubner M, Shin YS. Schuster V, et al. J Mol Med (Berl). 1998 Sep;76(10):715-9. doi: 10.1007/s001090050272. J Mol Med (Berl). 1998. PMID: 9766850
In addition, the father's second GALT allele revealed three intron mutations at nucleotide position 1105 (G-->C), 1323 (G-->A) and 1391 (G-->A) and the N314D mutation, which correspond to the mutations of Duarte-2 variant. ...
In addition, the father's second GALT allele revealed three intron mutations at nucleotide position 1105 (G-->C), 1323 (G-- …