Works matching IS 01418955 AND DT 2015 AND VI 38 AND IP 3

Results: 28

Erratum to: 12th international congress of inborn errors of metabolism, 3rd-6th September, 2013.

Published in:

2015

By:

Campistol, Jaime;
Ribes, Antonia

Publication type:

Erratum

Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 495, doi. 10.1007/s10545-014-9751-2

By:

Meijden, J.;
Güngör, D.;
Kruijshaar, M.;
Muir, A.;
Broekgaarden, H.;
Ploeg, A.

Publication type:

Article

Dietary management in glycogen storage disease type III: what is the evidence?

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 545, doi. 10.1007/s10545-014-9756-x

By:

Derks, Terry;
Smit, G.

Publication type:

Article

Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 521, doi. 10.1007/s10545-014-9761-0

By:

Rajas, Fabienne;
Clar, Julie;
Gautier-Stein, Amandine;
Mithieux, Gilles

Publication type:

Article

In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 529, doi. 10.1007/s10545-014-9763-y

By:

Nalin, Tatiéle;
Venema, Koen;
Weinstein, David;
Souza, Carolina;
Perry, Ingrid;
Wandelen, Mario;
Rijn, Margreet;
Smit, G.;
Schwartz, Ida;
Derks, Terry

Publication type:

Article

Large animal models and new therapies for glycogen storage disease.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 505, doi. 10.1007/s10545-014-9766-8

By:

Brooks, Elizabeth;
Koeberl, Dwight

Publication type:

Article

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 405, doi. 10.1007/s10545-014-9768-6

By:

Scheffler, Immo

Publication type:

Article

Exercise in muscle glycogen storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 551, doi. 10.1007/s10545-014-9771-y

By:

Preisler, Nicolai;
Haller, Ronald;
Vissing, John

Publication type:

Article

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 511, doi. 10.1007/s10545-014-9772-x

By:

Chou, Janice;
Jun, Hyun;
Mansfield, Brian

Publication type:

Article

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 477, doi. 10.1007/s10545-014-9773-9

By:

Franik, Sebastian;
Huidekoper, Hidde;
Visser, Gepke;
Vries, Maaike;
Boer, Lonneke;
Hermans-Peters, Marion;
Rodenburg, Richard;
Verhaak, Chris;
Vlieger, Arine;
Smeitink, Jan;
Janssen, Mirian;
Wortmann, Saskia

Publication type:

Article

TMEM70 deficiency: long-term outcome of 48 patients.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 417, doi. 10.1007/s10545-014-9774-8

By:

Magner, Martin;
Dvorakova, Veronika;
Tesarova, Marketa;
Mazurova, Stella;
Hansikova, Hana;
Zahorec, Martin;
Brennerova, Katarina;
Bzduch, Vladimir;
Spiegel, Ronen;
Horovitz, Yoseph;
Mandel, Hanna;
Eminoğlu, Fatma;
Mayr, Johannes;
Koch, Johannes;
Martinelli, Diego;
Bertini, Enrico;
Konstantopoulou, Vassiliki;
Smet, Joél;
Rahman, Shamima;
Broomfield, Alexander

Publication type:

Article

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 445, doi. 10.1007/s10545-014-9778-4

By:

Broomfield, Alexander;
Sweeney, Mary;
Woodward, Cathy;
Fratter, Carl;
Morris, Andrew;
Leonard, James;
Abulhoul, Lara;
Grunewald, Stephanie;
Clayton, Peter;
Hanna, Michael;
Poulton, Joanna;
Rahman, Shamima

Publication type:

Article

Reversible infantile mitochondrial diseases.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 427, doi. 10.1007/s10545-014-9784-6

By:

Boczonadi, Veronika;
Bansagi, Boglarka;
Horvath, Rita

Publication type:

Article

Glycogen pathways in disease: new developments in a classical field of medical genetics.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 483, doi. 10.1007/s10545-014-9785-5

By:

Kilimann, Manfred;
Oldfors, Anders

Publication type:

Article

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 391, doi. 10.1007/s10545-014-9787-3

By:

Sperl, Wolfgang;
Fleuren, Leanne;
Freisinger, Peter;
Haack, Tobias;
Ribes, Antonia;
Feichtinger, René;
Rodenburg, Richard;
Zimmermann, Franz;
Koch, Johannes;
Rivera, Isabel;
Prokisch, Holger;
Smeitink, Jan;
Mayr, Johannes

Publication type:

Article

Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 573, doi. 10.1007/s10545-014-9789-1

By:

Michon, Claire-Cécile;
Gargiulo, Marcela;
Hahn-Barma, Valérie;
Petit, François;
Nadaj-Pakleza, Aleksandra;
Herson, Ariane;
Eymard, Bruno;
Labrune, Philippe;
Laforet, Pascal

Publication type:

Article

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 467, doi. 10.1007/s10545-014-9796-2

By:

Danhauser, Katharina;
Smeitink, Jan;
Freisinger, Peter;
Sperl, Wolfgang;
Sabir, Hemmen;
Hadzik, Berit;
Mayatepek, Ertan;
Morava, Eva;
Distelmaier, Felix

Publication type:

Article

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 459, doi. 10.1007/s10545-014-9801-9

By:

Pitt, James;
Peters, Heidi;
Boneh, Avihu;
Yaplito-Lee, Joy;
Wieser, Stefanie;
Hinderhofer, Katrin;
Johnson, David;
Zschocke, Johannes

Publication type:

Article

Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 537, doi. 10.1007/s10545-015-9811-2

By:

Derks, Terry;
Rijn, Margreet

Publication type:

Article

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 437, doi. 10.1007/s10545-015-9823-y

By:

Wortmann, Saskia;
Koolen, David;
Smeitink, Jan;
Heuvel, Lambert;
Rodenburg, Richard

Publication type:

Article

Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 565, doi. 10.1007/s10545-015-9825-9

By:

Carlier, Pierre;
Azzabou, Noura;
Sousa, Paulo;
Hicks, Arnaud;
Boisserie, Jean-Marc;
Amadon, Alexis;
Carlier, Robert-Yves;
Wary, Claire;
Orlikowski, David;
Laforêt, Pascal

Publication type:

Article

Diane B. Paul and Jeffrey P Brosco: The PKU Paradox. A Short History of a Genetic Disease.

Published in:

2015

By:

Buist, Neil

Publication type:

Book Review

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Published in:

2015

By:

Magner, Martin;
Dvorakova, Veronika;
Tesarova, Marketa;
Mazurova, Stella;
Hansikova, Hana;
Zahorec, Martin;
Brennerova, Katarina;
Bzduch, Vladimir;
Spiegel, Ronen;
Horovitz, Yoseph;
Mandel, Hanna;
Eminoğlu, Fatma;
Mayr, Johannes;
Koch, Johannes;
Martinelli, Diego;
Bertini, Enrico;
Konstantopoulou, Vassiliki;
Smet, Joél;
Rahman, Shamima;
Broomfield, Alexander

Publication type:

Erratum

Christian Körner.

Published in:

2015

By:

Thiel, Christian

Publication type:

Editorial

Georg F. Hoffmann and Nenad Blau (eds): Congenital Neurotransmitter Disorders: A Clinical Approach.

Published in:

2015

By:

Boy, Nikolas;
Peters, Verena

Publication type:

Book Review

Glycogen storage diseases of all types.

Published in:

2015

By:

Hoffmann, Georg;
Smit, P.;
Schoser, B.

Publication type:

Editorial

Next generation mitochondrial disease: change in diagnostics with eyes on therapy.

Published in:

2015

By:

Morava, Eva;
Brown, Garry

Publication type:

Editorial

Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 489, doi. 10.1007/s10545-014-9744-1

By:

Brown, Laurie;
Corrado, Michelle;
Ende, Rixt;
Derks, Terry;
Chen, Margaret;
Siegel, Sara;
Hoyt, Kate;
Correia, Catherine;
Lumpkin, Christopher;
Flanagan, Theresa;
Carreras, Caroline;
Weinstein, David

Publication type:

Article