Ausgabe 2/2011
Inhalt (38 Artikel)
Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia
Gerard T. Berry, Louis J. Elsas
Biochemical diagnosis of mitochondrial disorders
Richard J. T. Rodenburg
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency
Saskia Koene, Peter H. G. M. Willems, Peggy Roestenberg, Werner J. H. Koopman, Jan A. M. Smeitink
Altering the balance between healthy and mutated mitochondrial DNA
Paul M. Smith, Robert N. Lightowlers
Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction
Saskia Koene, Jan Smeitink
Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations
Hélène Cwerman-Thibault, José-Alain Sahel, Marisol Corral-Debrinski
Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
Gerard T. Berry
Ovarian function in girls and women with GALT-deficiency galactosemia
Judith L. Fridovich-Keil, Cynthia S. Gubbels, Jessica B. Spencer, Rebecca D. Sanders, Jolande A. Land, Estela Rubio-Gozalbo
Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions
Inge Timmers, Job van den Hurk, Francesco Di Salle, M. Estela Rubio-Gozalbo, Bernadette M. Jansma
FSH isoform pattern in classic galactosemia
Cynthia S. Gubbels, Chris M. G. Thomas, Will K. W. H. Wodzig, André J. Olthaar, Jaak Jaeken, Fred C. G. J. Sweep, M. Estela Rubio-Gozalbo
Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life
Amber E. ten Hoedt, Heleen Maurice-Stam, Carolien C. A. Boelen, M. Estela Rubio-Gozalbo, Francjan J. van Spronsen, Frits A. Wijburg, Annet M. Bosch, Martha A. Grootenhuis
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening
Julia B. Hennermann, Peter Schadewaldt, Barbara Vetter, Yoon S. Shin, Eberhard Mönch, Jeannette Klein
Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots
Dae-Hyun Ko, Sun-Hee Jun, Kyoung Un Park, Sang Hoon Song, Jin Q Kim, Junghan Song
Psychosocial developmental milestones in men with classic galactosemia
Cynthia Sophia Gubbels, Maurice-Stam Heleen, Gerard Thomas Berry, Annet Maria Bosch, Susan Waisbren, Maria Estela Rubio-Gozalbo, Martha Alexandra Grootenhuis
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia
Björn Hoffmann, Udo Wendel, Susanne Schweitzer-Krantz
Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity
Philip Stein, Ruhua Yang, Jun Liu, Gregory M. Pastores, Pramod K. Mistry
Gender variability in presentation with Alpers’ syndrome: a report of eight patients from the UAE
Khalid Mohamed, Waseem FathAllah, Elamin Ahmed
PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation
Lu Tan, Srinivas B. Narayan, Jie Chen, Gail Ditewig Meyers, Michael J. Bennett
Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time
Charlotte Dawson, Elaine Murphy, Charlé Maritz, Heidi Chan, Charlotte Ellerton, R. H. S. Carpenter, Robin H. Lachmann
A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria
Sarah H. L. Yi, Julie A. Kable, Marian L. Evatt, Rani H. Singh
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase
Stinne P. Schmidt, Thomas J. Corydon, Christina B. Pedersen, Søren Vang, Johan Palmfeldt, Vibeke Stenbroen, Ronald J. A. Wanders, Jos P. N. Ruiter, Niels Gregersen
The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons
Katja Brauburger, Gerhard Burckhardt, Birgitta C. Burckhardt
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
Anne Roubergue, Emmanuelle Apartis, Valérie Mesnage, Diane Doummar, Jean-Marc Trocello, Emmanuel Roze, Guillaume Taieb, Thierry Billette De Villemeur, Sandrine Vuillaumier-Barrot, Marie Vidailhet, Richard Levy
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)
Chris J. Gardner, Nicola Robinson, Tim Meadows, Robert Wynn, Andrew Will, Jean Mercer, Heather J. Church, Karen Tylee, J. Edmond Wraith, Peter E. Clayton
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases
Kia Jane Langford-Smith, Jean Mercer, June Petty, Karen Tylee, Heather Church, Jane Roberts, Gill Moss, Simon Jones, Rob Wynn, J. Ed Wraith, Brian W. Bigger
Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group
Andreas Gal, Derralynn A. Hughes, Bryan Winchester
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation
Sarah-Louise Cottinet, Anne-Marie Bergemer-Fouquet, Annick Toutain, Frédérique Sabourdy, Zoha Maakaroun-Vermesse, Thierry Levade, Alain Chantepie, François Labarthe
Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission
Sofia T. Duarte, Carlos Ortez, Ana Pérez, Rafael Artuch, Angels García-Cazorla
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration
Emma J. Footitt, Simon J. Heales, Philippa B. Mills, George F. G. Allen, Marcus Oppenheim, Peter T. Clayton
UK experience of liver transplantation for erythropoietic protoporphyria
Joanna K. Dowman, Briget K. Gunson, Darius F. Mirza, Mike N. Badminton, Philip N. Newsome
Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie)
Michel C. Tchan, Nicole Graf, David O. Sillence
Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging
Elin Haf Davies, Kiran K. Seunarine, Tina Banks, Chris A. Clark, Ashok Vellodi
Erratum to: Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
Gerard T. Berry