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	1.	Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. [electronic resource] by Huppke, Peter Brendel, Cornelia Kalscheuer, Vera Korenke, Georg Christoph Marquardt, Iris Freisinger, Peter Christodoulou, John Hillebrand, Merle Pitelet, Gaele Wilson, Callum Gruber-Sedlmayr, Ursula Ullmann, Reinhard Haas, Stefan Elpeleg, Orly Nürnberg, Gudrun Nürnberg, Peter Dad, Shzeena Møller, Lisbeth Birk Kaler, Stephen G Gärtner, Jutta Producer: 20120312 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. [electronic resource] by Mercimek-Mahmutoglu, Saadet Ndika, Joseph Kanhai, Warsha de Villemeur, Thierry Billette Cheillan, David Christensen, Ernst Dorison, Nathalie Hannig, Vickie Hendriks, Yvonne Hofstede, Floris C Lion-Francois, Laurence Lund, Allan M Mundy, Helen Pitelet, Gaele Raspall-Chaure, Miquel Scott-Schwoerer, Jessica A Szakszon, Katalin Valayannopoulos, Vassili Williams, Monique Salomons, Gajja S Producer: 20150129 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. [electronic resource] by Khaikin, Yannay Sidky, Sarah Abdenur, Jose Anastasi, Arnaud Ballhausen, Diana Buoni, Sabrina Chan, Alicia Cheillan, David Dorison, Nathalie Goldenberg, Alice Goldstein, Jennifer Hofstede, Floris C Jacquemont, Marie-Line Koeberl, Dwight D Lion-Francois, Laurence Lund, Allan Meldgaard Mention, Karine Mundy, Helen O'Rourke, Declan Pitelet, Gaele Raspall-Chaure, Miquel Tassini, Maria Billette de Villemeur, Thierry Williams, Monique Salomons, Gajja S Mercimek-Andrews, Saadet Producer: 20180821 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)