Issue 3/2017
Content (20 Articles)
Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I
Esteban Alberto Gonzalez, Angela Maria Vicente Tavares, Edina Poletto, Roberto Giugliani, Ursula Matte, Guilherme Baldo
NTCP deficiency and persistently raised bile salts: an adult case
Filip Van Herpe, Hans R. Waterham, Christopher J. Adams, Marcel Mannens, Hennie Bikker, Frédéric M. Vaz, David Cassiman
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency–studies on treatment effects and long-term outcomes in mouse models
Sara Tucci
Sweet and sour: an update on classic galactosemia
Ana I. Coelho, M. Estela Rubio-Gozalbo, João B. Vicente, Isabel Rivera
Expanding the phenotype in argininosuccinic aciduria: need for new therapies
Julien Baruteau, Elisabeth Jameson, Andrew A. Morris, Anupam Chakrapani, Saikat Santra, Suresh Vijay, Huriye Kocadag, Clare E. Beesley, Stephanie Grunewald, Elaine Murphy, Maureen Cleary, Helen Mundy, Lara Abulhoul, Alexander Broomfield, Robin Lachmann, Yusof Rahman, Peter H. Robinson, Lesley MacPherson, Katharine Foster, W. Kling Chong, Deborah A. Ridout, Kirsten McKay Bounford, Simon N. Waddington, Philippa B. Mills, Paul Gissen, James E. Davison
Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study
Lin Wang, Hui Zou, Fang Ye, Kundi Wang, Xiaowen Li, Zhihua Chen, Jie Chen, Bingjuan Han, Weimin Yu, Chun He, Ming Shen
Neurocognitive profiles in MSUD school-age patients
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
Emma S. Reid, Hywel Williams, Glenn Anderson, Malika Benatti, Kling Chong, Chela James, Louise Ocaka, Cheryl Hemingway, Daniel Little, Richard Brown, Alasdair Parker, Simon Holden, Emma Footitt, Shamima Rahman, Paul Gissen, Philippa B. Mills, Peter T. Clayton
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam
Khanh Ngoc Nguyen, Elsayed Abdelkreem, Roberto Colombo, Yuki Hasegawa, Ngoc Thi Bich Can, Thao Phuong Bui, Hai Thanh Le, Mai Thi Chi Tran, Hoan Thi Nguyen, Hung Thanh Trinh, Yuka Aoyama, Hideo Sasai, Seiji Yamaguchi, Toshiyuki Fukao, Dung Chi Vu
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa, Shamima Rahman, Anne Lombès, Patrick Yu-Wai-Man, Muniza K. Sheikh, Sherita Alai-Hansen, Bruce H. Cohen, David Dimmock, Lisa Emrick, Marni J. Falk, Shana McCormack, David Mirsky, Tony Moore, Sumit Parikh, John Shoffner, Tanja Taivassalo, Mark Tarnopolsky, Ingrid Tein, Joanne C. Odenkirchen, Amy Goldstein, J. E. Abdenur, Vernon Anderson, Cristy Balcells, Mark Bamberger, Piero Barboni, Laurence Bindoff, Kathryn Camp, Valerio Carelli, Patrick Chinnery, Abigail Collins, William C. Copeland, Kristin Fiorino, Xiaowu Gai, Kerry Goetz, Bret Goodpaster, Andrea L. Gropman, Katrina A. Gwinn, Ronald Haller, Robert O. Heuckeroth, Michio Hirano, Graham E. Holder, Petra Kaufmann, Kierstin Keller, John L. Keltner, Matthew Klein, Thomas Klopstock, Saskia Koene, Mary Kay Koenig, Yasutoshi Koga, Danuta Krotoski, Pascal Laforêt, Anne Lombès, Robert McFarland, Margherita Milone, Philip Morgan, Alfredo A. Sadun, Russel Saneto, Fernando Scaglia, Curt Scharfe, Claire Sheldon, Jan Smeitink, Peter W. Stacpoole, Charles A. Stanley, David Thorburn, Rebecca Vaurio, Marcela Votruba, Karim Wahbi, Steven M. Willi, Lynne A. Wolfe, Edward Yang, Philip Yeske, Stephan Züchner, Steven Zullo
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
Stéphanie Paquay, Agnès Bourillon, Samia Pichard, Jean-François Benoist, Pascale de Lonlay, Dries Dobbelaere, Alain Fouilhoux, Nathalie Guffon, Isabelle Rouvet, François Labarthe, Karine Mention, Guy Touati, Vassili Valayannopoulos, Hélène Ogier de Baulny, Monique Elmaleh-Bergès, Cécile Acquaviva-Bourdain, Christine Vianey-Saban, Manuel Schiff
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
Saskia B. Wortmann, Margaret A. Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D. Botto, Tatiana Yuzyuk, Curtis R. Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B. Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A. J. Kluijtmans, Srirangan Sampath, Emil F. Pai, Ron A. Wevers, George E. Tiller, Saskia B. Wortmann, Ron A. Wevers, George E. Tiller, Margaret A. Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D. Botto, Tatiana Yuzyuk, Curtis R. Coughlin, Maria Descartes, Stephanie Grűnewald, McKenna N. M. Kyriss, Bruno Maranda, Philippa B. Mills, James Pitt, Catherine Potente, Emma S. Reid, Richard Rodenburg, Leo A. J. Kluijtmans, Srirangan Sampath, Janet A. Thomas, Paula J. Waters, Susan M. White, Emil F. Pai
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity
Jasmin Barman-Aksoezen, Domenico Girelli, Caterina Aurizi, Xiaoye Schneider-Yin, Natascia Campostrini, Luca Barbieri, Elisabeth I. Minder, Gianfranco Biolcati
Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA
Barbara King, Neil R. Marshall, Sofia Hassiotis, Paul J. Trim, Justin Tucker, Kathryn Hattersley, Marten F. Snel, Robert D. Jolly, John J. Hopwood, Kim M. Hemsley
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
Su Han Lum, Karolina M. Stepien, Arunabha Ghosh, Alexander Broomfield, Heather Church, Jean Mercer, Simon Jones, Robert Wynn
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome
Diogo C. Soares, Mariana N. Stroparo, Yu C. Lian, Cristina Y. Takakura, Sabrina Wolf, Regina Betz, Chong A. Kim