Issue 2/2018
Content (15 Articles)
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism
Kimberly A. Chapman, Julian Ostrovsky, Meera Rao, Stephen D. Dingley, Erzsebet Polyak, Marc Yudkoff, Rui Xiao, Michael J. Bennett, Marni J. Falk
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E. W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porcelli, Silvy J. M. van Dooren, Pascal Lennertz, Benjamin Nota, Jose E. Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc Nuoffer, Branka Polic, René Santer, Natalie Weinhold, Britton Zuccarelli, Ferdinando Palmieri, Luigi Palmieri, Gajja S. Salomons
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day
Nienke S. Kienstra, Hannah E. van Reemst, Willem G. van Ginkel, Anne Daly, Esther van Dam, Anita MacDonald, Johannes G. M. Burgerhof, Pim de Blaauw, Patrick J. McKiernan, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation
Simon Julius Mayr, Jörn Oliver Sass, Julia Vry, Janbernd Kirschner, Irina Mader, Jan-Bernd Hövener, Jochen Reiss, José Angel Santamaria-Araujo, Günter Schwarz, Sarah Catharina Grünert
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia
Tatiana Yuzyuk, Krista Viau, Ashley Andrews, Marzia Pasquali, Nicola Longo
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Alberto B. Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J. Desnick, Alessandro P. Burlina
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
Jitka Rybová, Jana Ledvinová, Jakub Sikora, Ladislav Kuchař, Robert Dobrovolný
Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression
Xing-Li Meng, Erland Arning, Mary Wight-Carter, Taniqua S. Day, Siamak Jabbarzadeh-Tabrizi, Shuyuan Chen, Robin J. Ziegler, Teodoro Bottiglieri, Jay W. Schneider, Seng H. Cheng, Raphael Schiffmann, Jin-Song Shen
Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease
Fahad J. Alharbi, Shanat Baig, Christiane Auray-Blais, Michel Boutin, Douglas G. Ward, Nigel Wheeldon, Rick Steed, Charlotte Dawson, Derralynn Hughes, Tarekegn Geberhiwot
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K
Sara Zeynelabidin, Femke C. C. Klouwer, Joost C. M. Meijers, Monique H. Suijker, Marc Engelen, Bwee Tien Poll-The, C. Heleen van Ommen
Timing of cognitive decline in CLN3 disease
Willemijn F. E. Kuper, Claudia van Alfen, Roeliene H. Rigterink, Sabine A. Fuchs, Maria M. van Genderen, Peter M. van Hasselt
Correlation between the molecular effects of mutations at the dimer interface of alanine–glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6
Mirco Dindo, Elisa Oppici, Daniele Dell’Orco, Rosa Montone, Barbara Cellini
Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note
Han Som Choi, Jae Hyun Lee, Sun Ho Lee, Young-Mock Lee
Skin lesions in a patient with Cobalamin C disease in poor metabolic control
Pankaj Prasun, Cristel Chapel-Crespo, Amy Williamson, Paul Chu, Kimihiko Oishi, George Diaz