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	1.	Severe lymphatic microangiopathy in Fabry disease. [electronic resource] by Amann-Vesti, Beatrice R Gitzelmann, Gabriele Widmer, Urs Bosshard, Nils U Steinmann, Beat Koppensteiner, Renate Producer: 20050201 In: Lymphatic research and biology vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. [electronic resource] by Balmer, Christian Ballhausen, Diana Bosshard, Nils U Steinmann, Beat Boltshauser, Eugen Bauersfeld, Urs Superti-Furga, Andrea Producer: 20060221 In: European journal of pediatrics vol. 164 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. [electronic resource] by Steet, Richard A Hullin, Roger Kudo, Mariko Martinelli, Michele Bosshard, Nils U Schaffner, Thomas Kornfeld, Stuart Steinmann, Beat Producer: 20050418 In: American journal of medical genetics. Part A vol. 132A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mass spectrometric analysis of human transferrin in different body fluids. [electronic resource] by Kleinert, Peter Kuster, Thomas Durka, Silke Ballhausen, Diana Bosshard, Nils U Steinmann, Beat Hänseler, Edgar Jaeken, Jaak Heizmann, Claus W Troxler, Heinz Producer: 20040727 In: Clinical chemistry and laboratory medicine vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. [electronic resource] by 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 Producer: 20051209 In: Molecular genetics and metabolism vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)