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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 3/2012

Ausgabe 3/2012

Inhaltsverzeichnis ( 22 Artikel )

01.05.2012 | Review | Ausgabe 3/2012

Oxidative stress in Phenylketonuria: future directions

Júlio César Rocha, Maria João Martins

01.05.2012 | Hypothesis | Ausgabe 3/2012 Open Access

Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model

“When the wine goes in, strange things come out” – S.T. Coleridge, The Piccolomini
M. Binkhorst, S. B. Wortmann, S. Funke, T. Kozicz, R. A. Wevers, E. Morava

01.05.2012 | Hypothesis | Ausgabe 3/2012

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

01.05.2012 | Rapid Communication | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012 Open Access

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012 Open Access

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012 Open Access

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Original Article | Ausgabe 3/2012

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

01.05.2012 | Letter to the Editors | Ausgabe 3/2012

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

01.05.2012 | Erratum | Ausgabe 3/2012

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

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