Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants von Yam, Gary Hin-Fai, Bosshard, Nils, Zuber, Christian, Steinmann, Beat, Roth, Jurgen

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Familial X-linked cardiomyopathy (Danon disease) : diagnostic confirmation by mutation analysis of the LAMP2gene von BALMER, Christian, BALLHAUSEN, Diana, BOSSHARD, Nils U, STEINMANN, Beat, BOLTSHAUSER, Eugen, BAUERSFELD, Urs, SUPERTI-FURGA, Andrea

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A splicing mutation in the α/β GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy von Steet, Richard A., Hullin, Roger, Kudo, Mariko, Martinelli, Michele, Bosshard, Nils U., Schaffner, Thomas, Kornfeld, Stuart, Steinmann, Beat

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Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries von Lugowska, Agnieszka, Amaral, Olga, Berger, Johannes, Berna, Linda, Bosshard, Nils U., Chabas, Amparo, Fensom, Anthony, Gieselmann, Volkmar, Gorovenko, Natalia G., Lissens, Willy, Mansson, Jan-Eric, Marcao, Ana, Michelakakis, Helen, Bernheimer, Hanno, Ol’khovych, Natalia V., Regis, Stefano, Sinke, Richard, Tylki-Szymanska, Anna, Czartoryska, Barbara

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Mass Spectrometric Analysis of Human Transferrin in Different Body Fluids von Kleinert, Peter, Kuster, Thomas, Durka, Silke, Ballhausen, Diana, Bosshard, Nils U., Steinmann, Beat, Hänseler, Edgar, Jaeken, Jaak, Heizmann, Claus W., Troxler, Heinz

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Case Report: Liver Glycogen Synthase Deficiency{---}A Cause of Ketotic Hypoglycemia von Rutledge, S. Lane, Atchison, Joycelyn, Bosshard, Nils U, Steinmann, Beat

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Severe lymphatic microangiopathy in Fabry disease von Amann-Vesti, Beatrice R, Gitzelmann, Gabriele, Widmer, Urs, Bosshard, Nils U, Steinmann, Beat, Koppensteiner, Renate

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Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II von Hermans, Monique M.P., Leenen, Dik van, Kroos, Marian A., Beesley, Clare E., Van der Ploeg, Ans T., Sakuraba, Hitoshi, Wevers, Ron, Kleijer, Wim, Michelakakis, Helen, Kirk, Edwin P., Fletcher, Janice, Bosshard, Nils, Basel-Vanagaite, Lina, Besley, Guy, Reuser, Arnold J.J.

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Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II von Hermans, Monique M.P., Leenen, Dik van, Kroos, Marian A., Beesley, Clare E., Van der Ploeg, Ans T., Sakuraba, Hitoshi, Wevers, Ron, Kleijer, Wim, Michelakakis, Helen, Kirk, Edwin P., Fletcher, Janice, Bosshard, Nils, Basel-Vanagaite, Lina, Besley, Guy, Reuser, Arnold J.J.

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A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies) von Kalaydjieva, Luba, Perez-Lezaun, Anna, Angelicheva, Dora, Onengut, Suna, Dye, Danielle, Bosshard, Nils U., Jordanova, Albena, Savov, Alexei, Yanakiev, Peter, Kremensky, Ivo, Radeva, Brigitta, Hallmayer, Joachim, Markov, Arseni, Nedkova, Vanya, Tournev, Ivailo, Aneva, Lidia, Gitzelmann, Richard

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Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation von GRAFAKOU, Olga, OEXLE, Konrad, VAN DEN HEUVEL, Lambert, SMEETS, Roel, TRIJBELS, Frans, GOEBEL, Hans H, BOSSHARD, Nils, SUPERTI-FURGA, Andrea, STEINMANN, Beat, SMEITINK, Jan

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Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants von Yam, Gary Hin-Fai, Bosshard, Nils, Zuber, Christian, Steinmann, Beat, Roth, Jurgen

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The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe von HUNTER, Michael, HEYER, Evelyne, GITZELMANN, Richard, TORDAI, Attila, KALMAR, Lajos, SZALAI, Csaba, BALOGH, Istvan, LUPU, Constantin, CORCHES, Axinia, POPA, Gabriela, PEREZ-LEZAUN, Anna, KALAYDJIEVA, Luba V, AUSTERLITZ, Frederic, ANGELICHEVA, Dora, NEDKOVA, Vania, BRIONES, Paz, GATA, Anna, DE PABLO, Rosario, LASZLO, Aranka, BOSSHARD, Nils

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Missense mutations in SGLT1 cause glucose–galactose malabsorption by trafficking defects von Lam, Jason T., Martı́n, Martı́n G., Turk, Eric, Hirayama, Bruce A., Bosshard, Nils U., Steinmann, Beat, Wright, Ernest M.

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Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene von Balmer, Christian, Ballhausen, Diana, Bosshard, Nils U, Steinmann, Beat, Boltshauser, Eugen, Bauersfeld, Urs, Superti-Furga, Andrea

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Liver glycogen synthase deficiency: A cause of ketotic hypoglycemia von RUTLEDGE, S. Lane, ATCHISON, Joycelyn, BOSSHARD, Nils U, STEINMANN, Beat

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A splicing mutation in the ?/? GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy von Steet, Richard A., Hullin, Roger, Kudo, Mariko, Martinelli, Michele, Bosshard, Nils U., Schaffner, Thomas, Kornfeld, Stuart, Steinmann, Beat

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Molecular diagnosis of type 1c glycogen storage disease von JANECKE, A. R, BOSSHARD, N. U, MAYATEPEK, E, SCHULZE, A, GITZELMANN, R, BURCHELL, A, BARTRAM, C. R, JANSSEN, B

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Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote von VERVOORT, R, GITZELMANN, R, BOSSHARD, N, MAIRE, I, LIEBAERS, I, LISSENS, W

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Mass spectrometric analysis of human transferrin in different body fluids: Mass Spectrometry von KLEINERT, Peter, KUSTER, Thomas, DURKA, Silke, BALLHAUSEN, Diana, BOSSHARD, Nils U, STEINMANN, Beat, HÄNSELER, Edgar, JAEKEN, Jaak, HEIZMANN, Claus W, TROXLER, Heinz

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