Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 2

Results: 38

Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 293, doi. 10.1007/s10545-009-9005-x

By:

Koene, Saskia;
Willems, Peter;
Roestenberg, Peggy;
Koopman, Werner;
Smeitink, Jan

Publication type:

Article

Biochemical diagnosis of mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 283, doi. 10.1007/s10545-010-9081-y

By:

Rodenburg, Richard

Publication type:

Article

A history of mitochondrial diseases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 261, doi. 10.1007/s10545-010-9082-x

By:

DiMauro, Salvatore

Publication type:

Article

Altering the balance between healthy and mutated mitochondrial DNA.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 309, doi. 10.1007/s10545-010-9122-6

By:

Smith, Paul;
Lightowlers, Robert

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 327, doi. 10.1007/s10545-010-9131-5

By:

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

Publication type:

Article

Classic galactosemia: dietary dilemmas.

Published in:

2011

By:

Bosch, Annet

Publication type:

Editorial

Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 315, doi. 10.1007/s10545-010-9162-y

By:

Koene, Saskia;
Smeitink, Jan

Publication type:

Article

FSH isoform pattern in classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 387, doi. 10.1007/s10545-010-9180-9

By:

Gubbels, Cynthia;
Thomas, Chris;
Wodzig, Will;
Olthaar, André;
Jaeken, Jaak;
Sweep, Fred;
Rubio-Gozalbo, M.

Publication type:

Article

Voice disorders in children with classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 377, doi. 10.1007/s10545-010-9213-4

By:

Potter, Nancy

Publication type:

Article

Biomarkers for mitochondrial respiratory chain disorders.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 277, doi. 10.1007/s10545-010-9222-3

By:

Suomalainen, Anu

Publication type:

Article

Ovarian function in girls and women with GALT-deficiency galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 357, doi. 10.1007/s10545-010-9221-4

By:

Fridovich-Keil, Judith;
Gubbels, Cynthia;
Spencer, Jessica;
Sanders, Rebecca;
Land, Jolande;
Rubio-Gozalbo, Estela

Publication type:

Article

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

Published in:

2011

By:

Berry, Gerard;
Elsas, Louis

Publication type:

Editorial

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 515, doi. 10.1007/s10545-010-9251-y

By:

Cottinet, Sarah-Louise;
Bergemer-Fouquet, Anne-Marie;
Toutain, Annick;
Sabourdy, Frédérique;
Maakaroun-Vermesse, Zoha;
Levade, Thierry;
Chantepie, Alain;
Labarthe, François

Publication type:

Article

Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 499, doi. 10.1007/s10545-010-9254-8

By:

Langford-Smith, Kia;
Mercer, Jean;
Petty, June;
Tylee, Karen;
Church, Heather;
Roberts, Jane;
Moss, Gill;
Jones, Simon;
Wynn, Rob;
Wraith, J.;
Bigger, Brian

Publication type:

Article

Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 465, doi. 10.1007/s10545-010-9255-7

By:

Schmidt, Stinne;
Corydon, Thomas;
Pedersen, Christina;
Vang, Søren;
Palmfeldt, Johan;
Stenbroen, Vibeke;
Wanders, Ronald;
Ruiter, Jos;
Gregersen, Niels

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 509, doi. 10.1007/s10545-010-9261-9

By:

Gal, Andreas;
Hughes, Derralynn;
Winchester, Bryan

Publication type:

Article

Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 523, doi. 10.1007/s10545-010-9256-6

By:

Duarte, Sofia;
Ortez, Carlos;
Pérez, Ana;
Artuch, Rafael;
García-Cazorla, Angels

Publication type:

Article

Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 483, doi. 10.1007/s10545-010-9264-6

By:

Roubergue, Anne;
Apartis, Emmanuelle;
Mesnage, Valérie;
Doummar, Diane;
Trocello, Jean-Marc;
Roze, Emmanuel;
Taieb, Guillaume;
Villemeur, Thierry;
Vuillaumier-Barrot, Sandrine;
Vidailhet, Marie;
Levy, Richard

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 345, doi. 10.1007/s10545-010-9260-x

By:

Berry, Gerard

Publication type:

Article

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 443, doi. 10.1007/s10545-010-9265-5

By:

Tan, Lu;
Narayan, Srinivas;
Chen, Jie;
Meyers, Gail;
Bennett, Michael

Publication type:

Article

Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H).

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 489, doi. 10.1007/s10545-010-9262-8

By:

Gardner, Chris;
Robinson, Nicola;
Meadows, Tim;
Wynn, Robert;
Will, Andrew;
Mercer, Jean;
Church, Heather;
Tylee, Karen;
Wraith, J.;
Clayton, Peter

Publication type:

Article

The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 477, doi. 10.1007/s10545-010-9268-2

By:

Brauburger, Katja;
Burckhardt, Gerhard;
Burckhardt, Birgitta

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 547, doi. 10.1007/s10545-010-9273-5

By:

Tchan, Michel;
Graf, Nicole;
Sillence, David

Publication type:

Article

Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 367, doi. 10.1007/s10545-010-9266-4

By:

Timmers, Inge;
Hurk, Job;
Salle, Francesco;
Rubio-Gozalbo, M.;
Jansma, Bernadette

Publication type:

Article

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 391, doi. 10.1007/s10545-010-9267-3

By:

Hoedt, Amber;
Maurice-Stam, Heleen;
Boelen, Carolien;
Rubio-Gozalbo, M.;
Spronsen, Francjan;
Wijburg, Frits;
Bosch, Annet;
Grootenhuis, Martha

Publication type:

Article

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 399, doi. 10.1007/s10545-010-9270-8

By:

Hennermann, Julia;
Schadewaldt, Peter;
Vetter, Barbara;
Shin, Yoon;
Mönch, Eberhard;
Klein, Jeannette

Publication type:

Article

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 429, doi. 10.1007/s10545-010-9271-7

By:

Stein, Philip;
Yang, Ruhua;
Liu, Jun;
Pastores, Gregory;
Mistry, Pramod

Publication type:

Article

Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 449, doi. 10.1007/s10545-010-9276-2

By:

Dawson, Charlotte;
Murphy, Elaine;
Maritz, Charlé;
Chan, Heidi;
Ellerton, Charlotte;
Carpenter, R.;
Lachmann, Robin

Publication type:

Article

UK experience of liver transplantation for erythropoietic protoporphyria.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 539, doi. 10.1007/s10545-010-9272-6

By:

Dowman, Joanna;
Gunson, Briget;
Mirza, Darius;
Badminton, Mike;
Newsome, Philip

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 439, doi. 10.1007/s10545-011-9278-8

By:

Mohamed, Khalid;
FathAllah, Waseem;
Ahmed, Elamin

Publication type:

Article

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 529, doi. 10.1007/s10545-011-9279-7

By:

Footitt, Emma;
Heales, Simon;
Mills, Philippa;
Allen, George;
Oppenheim, Marcus;
Clayton, Peter

Publication type:

Article

A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 455, doi. 10.1007/s10545-011-9277-9

By:

Yi, Sarah;
Kable, Julie;
Evatt, Marian;
Singh, Rani

Publication type:

Article

Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 549, doi. 10.1007/s10545-011-9288-6

By:

Davies, Elin;
Seunarine, Kiran;
Banks, Tina;
Clark, Chris;
Vellodi, Ashok

Publication type:

Article

Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 409, doi. 10.1007/s10545-011-9291-y

By:

Ko, Dae-Hyun;
Jun, Sun-Hee;
Park, Kyoung;
Song, Sang;
Kim, Jin;
Song, Junghan

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 421, doi. 10.1007/s10545-011-9297-5

By:

Hoffmann, Björn;
Wendel, Udo;
Schweitzer-Krantz, Susanne

Publication type:

Article

Psychosocial developmental milestones in men with classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 415, doi. 10.1007/s10545-011-9290-z

By:

Gubbels, Cynthia;
Maurice-Stam, Heleen;
Berry, Gerard;
Bosch, Annet;
Waisbren, Susan;
Rubio-Gozalbo, Maria;
Grootenhuis, Martha

Publication type:

Article

Mitochondrial medicine.

Published in:

2011

By:

Koene, Saskia;
Smeitink, Jan

Publication type:

Editorial

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

Published in:

2011

By:

Berry, Gerard

Publication type:

Correction Notice