Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 2

Results: 16

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 261, doi. 10.1007/s10545-016-0010-6

By:

Riley, Lisa;
Cowley, Mark;
Gayevskiy, Velimir;
Roscioli, Tony;
Thorburn, David;
Prelog, Kristina;
Bahlo, Melanie;
Sue, Carolyn;
Balasubramaniam, Shanti;
Christodoulou, John

Publication type:

Article

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 237, doi. 10.1007/s10545-016-0011-5

By:

Sofou, Kalliopi;
Dahlin, Maria;
Hallböök, Tove;
Lindefeldt, Marie;
Viggedal, Gerd;
Darin, Niklas

Publication type:

Article

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 195, doi. 10.1007/s10545-016-0012-4

By:

Marques-da-Silva, D.;
Reis Ferreira, V.;
Monticelli, M.;
Janeiro, P.;
Videira, P.;
Witters, P.;
Jaeken, J.;
Cassiman, D.

Publication type:

Article

Nenad Blau (ed.). Phenylketonuria and BH4 deficiencies.

Published in:

2017

By:

Boneh, Avihu

Publication type:

Book Review

Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 219, doi. 10.1007/s10545-016-0002-6

By:

Choukair, Daniela;
Kneppo, Carolin;
Feneberg, Reinhard;
Schönau, Eckhard;
Lindner, Martin;
Kölker, Stefan;
Hoffmann, Georg;
Tönshoff, Burkhard

Publication type:

Article

News and views.

Published in:

2017

By:

Houten, Sander

Publication type:

Report

Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 209, doi. 10.1007/s10545-016-0004-4

By:

Landau, Yuval;
Waisbren, Susan;
Chan, Lawrence;
Levy, Harvey

Publication type:

Article

Small molecules as therapeutic agents for inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 177, doi. 10.1007/s10545-016-0005-3

By:

Matalonga, Leslie;
Gort, Laura;
Ribes, Antonia

Publication type:

Article

Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 271, doi. 10.1007/s10545-016-0006-2

By:

Rodgers, Nathan;
Kaizer, Alexander;
Miller, Weston;
Rudser, Kyle;
Orchard, Paul;
Braunlin, Elizabeth

Publication type:

Article

Multicompartment analysis of protein-restricted phenylketonuric mice reveals amino acid imbalances in brain.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 227, doi. 10.1007/s10545-016-9984-3

By:

Vogel, Kara;
Arning, Erland;
Bottiglieri, Teodoro;
Gibson, K.

Publication type:

Article

Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 291, doi. 10.1007/s10545-016-9986-1

By:

Kwon, Young;
Falk, Marni;
Bennett, Michael

Publication type:

Article

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 297, doi. 10.1007/s10545-016-9987-0

By:

Burda, Patricie;
Suormala, Terttu;
Heuberger, Dorothea;
Schäfer, Alexandra;
Fowler, Brian;
Froese, D.;
Baumgartner, Matthias

Publication type:

Article

Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 281, doi. 10.1007/s10545-016-9988-z

By:

Osborn, Mark;
Webber, Beau;
McElmurry, Ronald;
Rudser, Kyle;
DeFeo, Anthony;
Muradian, Michael;
Petryk, Anna;
Hallgrimsson, Benedikt;
Blazar, Bruce;
Tolar, Jakub;
Braunlin, Elizabeth

Publication type:

Article

The galactosemia network (GalNet).

Published in:

2017

By:

Rubio-Gozalbo, M.;
Bosch, A.;
Burlina, A.;
Berry, G.;
Treacy, E.

Publication type:

Letter

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 171, doi. 10.1007/s10545-016-9990-5

By:

Welling, Lindsey;
Bernstein, Laurie;
Berry, Gerard;
Burlina, Alberto;
Eyskens, François;
Gautschi, Matthias;
Grünewald, Stephanie;
Gubbels, Cynthia;
Knerr, Ina;
Labrune, Philippe;
Lee, Johanna;
MacDonald, Anita;
Murphy, Elaine;
Portnoi, Pat;
Õunap, Katrin;
Potter, Nancy;
Rubio-Gozalbo, M.;
Spencer, Jessica;
Timmers, Inge;
Treacy, Eileen

Publication type:

Article

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? - a retrospective pilot study.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 247, doi. 10.1007/s10545-016-0001-7

By:

Koene, S.;
Timmermans, J.;
Weijers, G.;
Laat, P.;
Korte, C.;
Smeitink, J.;
Janssen, M.;
Kapusta, L.

Publication type:

Article