Issue 3/2012
Content (22 Articles)
Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model
M. Binkhorst, S. B. Wortmann, S. Funke, T. Kozicz, R. A. Wevers, E. Morava
Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 – a hypothesis
Etresia van Dyk, Pieter J. Pretorius
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation
R. Manara, M. Del Rizzo, A. P. Burlina, A. Bordugo, V. Citton, P. Rodriguez-Pombo, M. Ugarte, A. B. Burlina
A series of pregnancies in women with inherited metabolic disease
Janneke G Langendonk, Jonathan CP Roos, Lindsay Angus, Monique Williams, François PJ Karstens, Johannes BC de Klerk, Charlé Maritz, Tawfeg Ben-Omran, Catherine Williamson, Robin H Lachmann, Elaine Murphy
Bone development in children and adolescents with PKU
A. B. Mendes, F. F. Martins, W. M. S. Cruz, L. E. da Silva, C.B.M. Abadesso, G.T. Boaventura
An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1
Tereza Moore, Anthony Le, Tina M. Cowan
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
Jörn Oliver Sass, Melanie Walter, Julian P. H. Shield, Andrea M. Atherton, Uttam Garg, David Scott, C. Geoffrey Woods, Laurie D. Smith
Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients
Paula B. M. Luís, Jos P. Ruiter, Lodewijk IJlst, Luísa Diogo, Paula Garcia, Isabel Tavares de Almeida, Marinus Duran, Ronald J. Wanders, Margarida F. B. Silva
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy
Carla Giordano, Carlo Viscomi, Maurizia Orlandi, Paola Papoff, Alberto Spalice, Alberto Burlina, Ivano Di Meo, Valeria Tiranti, Vincenzo Leuzzi, Giulia d’Amati, Massimo Zeviani
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
Emma Glamuzina, Ruth Brown, Kieran Hogarth, Dawn Saunders, Isabelle Russell-Eggitt, Matthew Pitt, Carlos de Sousa, Shamima Rahman, Garry Brown, Stephanie Grunewald
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts
Aleš Hnízda, Vojtěch Jurga, Kateřina Raková, Viktor Kožich
Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated
Guglielmo R. D. Villani, Armando Chierchia, Daniele Di Napoli, Paola Di Natale
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB1 alleles causing GM1-gangliosidosis and Morquio B disease
Katrin M. Fantur, Tanja M. Wrodnigg, Arnold E. Stütz, Bettina M. Pabst, Eduard Paschke
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy
C. M. van Gelder, C. I. van Capelle, B. J. Ebbink, I. Moor-van Nugteren, J. M. P. van den Hout, M. M. Hakkesteegt, P. A. van Doorn, I. F. M. de Coo, A. J. J. Reuser, H. H. W. de Gier, A. T. van der Ploeg
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease
Caterina Porto, Antonio Pisani, Margherita Rosa, Emma Acampora, Valeria Avolio, Maria Rosaria Tuzzi, Bianca Visciano, Cristina Gagliardo, Serena Materazzi, Giancarlo la Marca, Generoso Andria, Giancarlo Parenti
Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism
Catherine P. K. Chong, Philippa B. Mills, Patricia McClean, Paul Gissen, Christopher Bruce, Jens Stahlschmidt, A. S. Knisely, Peter T. Clayton
Deletion of GPIHBP1 causing severe chylomicronemia
Jonathan J. Rios, Savitha Shastry, Juan Jasso, Natalie Hauser, Abhimanyu Garg, André Bensadoun, Jonathan C. Cohen, Helen H. Hobbs
Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms
Radan Bruha, Libor Vitek, Zdenek Marecek, Lenka Pospisilova, Sona Nevsimalova, Pavel Martasek, Jaromir Petrtyl, Petr Urbanek, Alena Jiraskova, Ivana Malikova, Martin Haluzik, Peter Ferenci
Females experience a more severe disease course in batten disease
Jennifer Cialone, Heather Adams, Erika F. Augustine, Frederick J. Marshall, Jennifer M. Kwon, Nicole Newhouse, Amy Vierhile, Erika Levy, Leon S. Dure, Katherine R. Rose, Denia Ramirez-Montealegre, Elisabeth A. de Blieck, Jonathan W. Mink
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria
Mara Doimo, Eva Trevisson, Geppo Sartori, Alberto Burlina, Leonardo Salviati
Erratum to: Females experience a more severe disease course in batten disease
Jennifer Cialone, Heather Adams, Erika F. Augustine, Frederick J. Marshall, Jennifer M. Kwon, Nicole Newhouse, Amy Vierhile, Erika Levy, Leon S. Dure, Katherine R. Rose, Denia Ramirez-Montealegre, Elisabeth A. de Blieck, Jonathan W. Mink