Your search returned 26 results.

Results
	21.	Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA. [electronic resource] by Roberts, Ainslie L K Derrick Howarth, Gordon S Liaw, Wan Chin Moretta, Simon Kritas, Stamatiki Lymn, Kerry A Yazbeck, Roger Tran, Cuong Fletcher, Janice M Butler, Ross N Byers, Sharon Producer: 20090316 In: Journal of cellular physiology vol. 219 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. [electronic resource] by McFarland, Robert Kirby, Denise M Fowler, Kerry J Ohtake, Akira Ryan, Michael T Amor, David J Fletcher, Janice M Dixon, Joanne W Collins, Felicity A Turnbull, Douglass M Taylor, Robert W Thorburn, David R Producer: 20040312 In: Annals of neurology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. [electronic resource] by Byrne, Alicia B Arts, Peer Polyak, Steven W Feng, Jinghua Schreiber, Andreas W Kassahn, Karin S Hahn, Christopher N Mordaunt, Dylan A Fletcher, Janice M Lipsett, Jillian Bratkovic, Drago Booker, Grant W Smith, Nicholas J Scott, Hamish S Publication details: NPJ genomic medicine 2019 In: NPJ genomic medicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. [electronic resource] by Calvo, Sarah E Compton, Alison G Hershman, Steven G Lim, Sze Chern Lieber, Daniel S Tucker, Elena J Laskowski, Adrienne Garone, Caterina Liu, Shangtao Jaffe, David B Christodoulou, John Fletcher, Janice M Bruno, Damien L Goldblatt, Jack Dimauro, Salvatore Thorburn, David R Mootha, Vamsi K Producer: 20120913 In: Science translational medicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage. [electronic resource] by Linthorst, Gabor E Burlina, Alessandro P Cecchi, Franco Cox, Timothy M Fletcher, Janice M Feldt-Rasmussen, Ulla Giugliani, Roberto Hollak, Carla E M Houge, Gunnar Hughes, Derralynn Kantola, Iikka Lachmann, Robin Lopez, Monica Ortiz, Alberto Parini, Rossella Rivera, Alberto Rolfs, Arndt Ramaswami, Uma Svarstad, Einar Tondel, Camilla Tylki-Szymanska, Anna Vujkovac, Bojan Waldek, Steven West, Michael Weidemann, F Mehta, Atul Producer: 20130225 In: JIMD reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. [electronic resource] by Stadler, Sonja C Polanetz, Roman Maier, Esther M Heidenreich, Sylvia C Niederer, Birgit Mayerhofer, Peter U Lagler, Florian Koch, Hans-Georg Santer, René Fletcher, Janice M Ranieri, Enzo Das, Anibh M Spiekerkötter, Ute Schwab, Karl O Pötzsch, Simone Marquardt, Iris Hennermann, Julia B Knerr, Ina Mercimek-Mahmutoglu, Saadet Kohlschmidt, Nicolai Liebl, Bernhard Fingerhut, Ralph Olgemöller, Bernhard Muntau, Ania C Roscher, Adelbert A Röschinger, Wulf Producer: 20061016 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)