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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 2/2011

Ausgabe 2/2011

Inhaltsverzeichnis ( 38 Artikel )

01.04.2011 | Editorial | Ausgabe 2/2011 Open Access

Mitochondrial medicine

Saskia Koene, Jan Smeitink

01.04.2011 | Editorial | Ausgabe 2/2011

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

Gerard T. Berry, Louis J. Elsas

01.04.2011 | Editorial | Ausgabe 2/2011 Open Access

Classic galactosemia: dietary dilemmas

Annet M. Bosch

01.04.2011 | Mitochondrial Medicine | Ausgabe 2/2011

A history of mitochondrial diseases

Salvatore DiMauro

01.04.2011 | Mitochondrial Medicine | Ausgabe 2/2011

Biomarkers for mitochondrial respiratory chain disorders

Anu Suomalainen

01.04.2011 | Mitochondrial Medicine | Ausgabe 2/2011 Open Access

Biochemical diagnosis of mitochondrial disorders

Richard J. T. Rodenburg

01.04.2011 | Mitochondrial Medicine | Ausgabe 2/2011

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

01.04.2011 | Mitochondrial Medicine | Ausgabe 2/2011

Altering the balance between healthy and mutated mitochondrial DNA

Paul M. Smith, Robert N. Lightowlers

01.04.2011 | Mitochondrial Medicine | Ausgabe 2/2011 Open Access

Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction

Saskia Koene, Jan Smeitink

01.04.2011 | Mitochondrial Medicine | Ausgabe 2/2011

Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations

Hélène Cwerman-Thibault, José-Alain Sahel, Marisol Corral-Debrinski

01.04.2011 | Galactosemia | Ausgabe 2/2011

Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?

Gerard T. Berry

01.04.2011 | Galactosemia | Ausgabe 2/2011 Open Access

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

01.04.2011 | Galactosemia | Ausgabe 2/2011 Open Access

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

01.04.2011 | Galactosemia | Ausgabe 2/2011

Voice disorders in children with classic galactosemia

Nancy L. Potter

01.04.2011 | Galactosemia | Ausgabe 2/2011 Open Access

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

01.04.2011 | Galactosemia | Ausgabe 2/2011 Open Access

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

01.04.2011 | Galactosemia | Ausgabe 2/2011

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

01.04.2011 | Galactosemia | Ausgabe 2/2011

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

01.04.2011 | Original Article | Ausgabe 2/2011 Open Access

Psychosocial developmental milestones in men with classic galactosemia

Cynthia Sophia Gubbels, Heleen Maurice-Stam, Gerard Thomas Berry, Annet Maria Bosch, Susan Waisbren, Maria Estela Rubio-Gozalbo, Martha Alexandra Grootenhuis

01.04.2011 | GALACTOSEMIA | Ausgabe 2/2011

Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia

Björn Hoffmann, Udo Wendel, Susanne Schweitzer-Krantz

01.04.2011 | Rapid Communication | Ausgabe 2/2011

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

01.04.2011 | Rapid Communication | Ausgabe 2/2011

Gender variability in presentation with Alpers’ syndrome: a report of eight patients from the UAE

Khalid Mohamed, Waseem FathAllah, Elamin Ahmed

01.04.2011 | Original Article | Ausgabe 2/2011

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

01.04.2011 | Original Article | Ausgabe 2/2011

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

01.04.2011 | Original Article | Ausgabe 2/2011

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

01.04.2011 | Original Article | Ausgabe 2/2011 Open Access

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

01.04.2011 | Original Article | Ausgabe 2/2011 Open Access

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

01.04.2011 | Original Article | Ausgabe 2/2011

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

01.04.2011 | Original Article | Ausgabe 2/2011

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

01.04.2011 | Original Article | Ausgabe 2/2011 Open Access

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

01.04.2011 | Original Article | Ausgabe 2/2011 Open Access

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group

Andreas Gal, Derralynn A. Hughes, Bryan Winchester

01.04.2011 | Original Article | Ausgabe 2/2011

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

01.04.2011 | Original Article | Ausgabe 2/2011

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

01.04.2011 | Original Article | Ausgabe 2/2011

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

01.04.2011 | Original Article | Ausgabe 2/2011 Open Access

UK experience of liver transplantation for erythropoietic protoporphyria

Joanna K. Dowman, Briget K. Gunson, Darius F. Mirza, Mike N. Badminton, Philip N. Newsome, on behalf of the UK Liver Selection and Allocation Working Party

01.04.2011 | Images in Metabolic Medicine | Ausgabe 2/2011

Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie)

Michel C. Tchan, Nicole Graf, David O. Sillence

01.04.2011 | Images in Metabolic Medicine | Ausgabe 2/2011

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

01.04.2011 | Erratum | Ausgabe 2/2011

Erratum to: Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?

Gerard T. Berry

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