Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients von Müller-Felber, Wolfgang, Horvath, Rita, Gempel, Klaus, Podskarbi, Teodor, Shin, Yoon, Pongratz, Dieter, Walter, Maggie C, Baethmann, Martina, Schlotter-Weigel, Beate, Lochmüller, Hanns, Schoser, Benedikt

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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 muta... von Aoyama, Yoshiko, Ozer, Isil, Demirkol, Mubeccel, Ebara, Tetsu, Murase, Toshio, Podskarbi, Teodor, Shin, Yoon S, Gokcay, Gulden, Okubo, Minoru

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Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey von Endo, Yoriko, Horinishi, Asako, Vorgerd, Matthias, Aoyama, Yoshiko, Ebara, Tetsu, Murase, Toshio, Odawara, Masato, Podskarbi, Teodor, Shin, Yoon S, Okubo, Minoru

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Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa von Aoyama, Yoshiko, Endo, Yoriko, Ebara, Tetsu, Murase, Toshio, Shin, Yoon S., Podskarbi, Teodor, Ozer, Isil, Demirkol, Mübeccel, Gökçay, Gülden, Okubo, Minoru

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Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey von Okubo, Minoru, Ucar, Sema Kalkan, Podskarbi, Teodor, Murase, Toshio, Shin, Yoon S., Coker, Mahmut

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Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormali... von Szymańska, Edyta, Szymańska, Sylwia, Truszkowska, Grażyna, Ciara, Elżbieta, Pronicki, Maciej, Shin, Yoon S, Podskarbi, Teodor, Kępka, Alina, Śpiewak, Mateusz, Płoski, Rafał, Bilińska, Zofia T, Rokicki, Dariusz

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Multiple phenotypes in phosphoglucomutase 1 deficiency von Tegtmeyer, Laura C, Rust, Stephan, van Scherpenzeel, Monique, Ng, Bobby G, Losfeld, Marie-Estelle, Timal, Sharita, Raymond, Kimiyo, He, Ping, Ichikawa, Mie, Veltman, Joris, Huijben, Karin, Shin, Yoon S, Sharma, Vandana, Adamowicz, Maciej, Lammens, Martin, Reunert, Janine, Witten, Anika, Schrapers, Esther, Matthijs, Gert, Jaeken, Jaak, Rymen, Daisy, Stojkovic, Tanya, Laforêt, Pascal, Petit, François, Aumaître, Olivier, Czarnowska, Elzbieta, Piraud, Monique, Podskarbi, Teodor, Stanley, Charles A, Matalon, Reuben, Burda, Patricie, Seyyedi, Soraya, Debus, Volker, Socha, Piotr, Sykut-Cegielska, Jolanta, van Spronsen, Francjan, de Meirleir, Linda, Vajro, Pietro, DeClue, Terry, Ficicioglu, Can, Wada, Yoshinao, Wevers, Ron A, Vanderschaeghe, Dieter, Callewaert, Nico, Fingerhut, Ralph, van Schaftingen, Emile, Freeze, Hudson H, Morava, Eva, Lefeber, Dirk J, Marquardt, Thorsten

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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 von Endo, Yoriko, Fateen, Ekram, El Shabrawy, Mortada, Aoyama, Yoshiko, Ebara, Tetsu, Murase, Toshio, Podskarbi, Teodor, Shin, Yoon S., Okubo, Minoru

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Delayed or late-onset type II glycogenosis with globular inclusions von Sharma, Mehar C, Schultze, Christoph, von Moers, Arpad, Stoltenburg-Didinger, Gisela, Shin, Yoon S, Podskarbi, Teodor, Isenhardt, Klaus, Tews, Dominique S, Goebel, Hans H

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Unclassified polysaccharidosis of the heart and skeletal muscle in siblings von Schoser, Benedikt, Bruno, Claudio, Schneider, Hans-Christian, Shin, Yoon S., Podskarbi, Teodor, Goldfarb, Lev, Müller-Felber, Wolfgang, Müller-Höcker, Josef

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Corrigendum to “Unclassified polysaccharidosis of the heart and skeletal muscle in siblings” [Mol. Genet. Metabol. 95 (2008) 52–58] von Schoser, Benedikt, Bruno, Claudio, Schneider, Hans-Christian, Shin, Yoon S., Podskarbi, Teodor, Goldfarb, Lev, Müller-Felber, Wolfgang, Müller-Höcker, Josef

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Oligosymptomatic Cornea Verticillata in a Heterozygote for Fabry Disease: A Novel Mutation in the Alpha-galactosidase Gene von Kono, Jean Oscar Kono, Podskarbi, Teodor, Shin, Yoon, Lanzl, Ines

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Mutation analysis in glycogen storage disease type 1 non-a von JANECKE, Andreas R, LINDNER, Martin, ERDEL, Martin, MAYATEPEK, Ertan, MÖSLINGER, Dorothea, PODSKARBI, Teodor, FRESSER, Friedrich, STÖCKLER-IPSIROGLU, Silvia, HOFFMANN, Georg F, UTERMANN, Gerd

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A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a von Keller, Klaus M., Schütz, Martin, Podskarbi, Teodor, Bindl, Lutz, Lentze, Michael J., Shin, Yoon S.

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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 galactosem... von SCHUSTER, V, PODSKARBI, T, OTTENSMEIER, H, HAUBNER, M, YOON SOOK SHIN

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Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia von SHIN, Y. S, GATHOF, B. S, PODSKARBI, T, SOMMER, M, GIUGLIANI, R, GRESSER, U

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Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa von Aoyama, Yoshiko, Endo, Yoriko, Ebara, Tetsu, Murase, Toshio, Shin, Yoon S., Podskarbi, Teodor, Ozer, Isil, Demirkol, Mübeccel, Gökçay, Gülden, Okubo, Minoru

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