Works matching IS 01418955 AND DT 2016 AND VI 39 AND IP 1

Results: 18

Reference values of amino acids and of common clinical chemistry in plasma of healthy infants aged 1 and 4 months.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 25, doi. 10.1007/s10545-015-9870-4

By:

Haschke-Becher, Elisabeth;
Kainz, Alexander;
Bachmann, Claude

Publication type:

Article

Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 67, doi. 10.1007/s10545-015-9865-1

By:

Lindroos, Markus;
Pärkkä, Jussi;
Taittonen, Markku;
Iozzo, Patricia;
Kärppä, Mikko;
Hassinen, Ilmo;
Knuuti, Juhani;
Nuutila, Pirjo;
Majamaa, Kari

Publication type:

Article

Concomitant immune-related events in Wilson disease: implications for monitoring chelator therapy.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 125, doi. 10.1007/s10545-015-9866-0

By:

Seessle, Jessica;
Gotthardt, Daniel;
Schäfer, Mark;
Gohdes, Annina;
Pfeiffenberger, Jan;
Ferenci, Peter;
Stremmel, Wolfgang;
Weiss, Karl

Publication type:

Article

Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 85, doi. 10.1007/s10545-015-9869-x

By:

Schretlen, David;
Callon, Wynne;
Ward, Rebecca;
Fu, Rong;
Ho, Tiffany;
Gordon, Barry;
Harris, James;
Jinnah, H.

Publication type:

Article

Computational modeling to predict nitrogen balance during acute metabolic decompensation in patients with urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 17, doi. 10.1007/s10545-015-9882-0

By:

MacLeod, Erin;
Hall, Kevin;
McGuire, Peter

Publication type:

Article

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 75, doi. 10.1007/s10545-015-9873-1

By:

Mignarri, Andrea;
Magni, Alessandro;
Puppo, Marina;
Gallus, Gian;
Björkhem, Ingemar;
Federico, Antonio;
Dotti, Maria

Publication type:

Article

N-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 131, doi. 10.1007/s10545-015-9876-y

By:

Abela, Lucia;
Simmons, Luke;
Steindl, Katharina;
Schmitt, Bernhard;
Mastrangelo, Massimo;
Joset, Pascal;
Papuc, Mihaela;
Sticht, Heinrich;
Baumer, Alessandra;
Crowther, Lisa;
Mathis, Déborah;
Rauch, Anita;
Plecko, Barbara

Publication type:

Article

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 93, doi. 10.1007/s10545-015-9880-2

By:

Berendse, Kevin;
Engelen, Marc;
Ferdinandusse, Sacha;
Majoie, Charles;
Waterham, Hans;
Vaz, Frédéric;
Koelman, Johannes;
Barth, Peter;
Wanders, Ronald;
Poll-The, Bwee

Publication type:

Article

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 139, doi. 10.1007/s10545-015-9881-1

By:

Khangura, Sara;
Tingley, Kylie;
Chakraborty, Pranesh;
Coyle, Doug;
Kronick, Jonathan;
Laberge, Anne-Marie;
Little, Julian;
Miller, Fiona;
Mitchell, John;
Prasad, Chitra;
Siddiq, Shabnaz;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy;
Stockler, Sylvia;
Trakadis, Yannis;
Wilson, Brenda;
Wilson, Kumanan;
Potter, Beth

Publication type:

Article

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 47, doi. 10.1007/s10545-015-9871-3

By:

Djouadi, Fatima;
Habarou, Florence;
Bachelier, Carole;
Ferdinandusse, Sacha;
Schlemmer, Dimitri;
Benoist, Jean;
Boutron, Audrey;
Andresen, Brage;
Visser, Gepke;
Lonlay, Pascale;
Olpin, Simon;
Fukao, Toshiyuki;
Yamaguchi, Seiji;
Strauss, Arnold;
Wanders, Ronald;
Bastin, Jean

Publication type:

Article

Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 39, doi. 10.1007/s10545-015-9883-z

By:

Gupta, Sapna;
Wang, Liqun;
Kruger, Warren

Publication type:

Article

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc is a biomarker of ALG1-CDG.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 107, doi. 10.1007/s10545-015-9884-y

By:

Bengtson, Per;
Ng, Bobby;
Jaeken, Jaak;
Matthijs, Gert;
Freeze, Hudson;
Eklund, Erik

Publication type:

Article

Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 59, doi. 10.1007/s10545-015-9885-x

By:

Manjeri, Ganesh;
Rodenburg, Richard;
Blanchet, Lionel;
Roelofs, Suzanne;
Nijtmans, Leo;
Smeitink, Jan;
Driessen, Jacques;
Koopman, Werner;
Willems, Peter

Publication type:

Article

Nervous system involvement in Farber disease.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 149, doi. 10.1007/s10545-015-9890-0

By:

Cappellari, Alberto;
Torcoletti, Marta;
Triulzi, Fabio;
Corona, Fabrizia

Publication type:

Article

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.

Published in:

2016

By:

Bowron, Ann;
Honeychurch, Julie;
Williams, Maggie;
Tsai-Goodman, Beverley;
Clayton, Nicol;
Jones, Lucy;
Shortland, Graham;
Qureshi, Shakeel;
Heales, Simon;
Steward, Colin

Publication type:

Erratum

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 3, doi. 10.1007/s10545-015-9896-7

By:

Staufner, Christian;
Haack, Tobias;
Köpke, Marlies;
Straub, Beate;
Kölker, Stefan;
Thiel, Christian;
Freisinger, Peter;
Baric, Ivo;
McKiernan, Patrick;
Dikow, Nicola;
Harting, Inga;
Beisse, Flemming;
Burgard, Peter;
Kotzaeridou, Urania;
Lenz, Dominic;
Kühr, Joachim;
Himbert, Urban;
Taylor, Robert;
Distelmaier, Felix;
Vockley, Jerry

Publication type:

Article

Peer review fraud-it's not big and it's not clever.

Published in:

2016

By:

Rahman, Shamima;
Baumgartner, Matthias;
Morava, Eva;
Patterson, Marc;
Peters, Verena;
Zschocke, Johannes

Publication type:

Editorial

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6

By:

Huemer, Martina;
Mulder-Bleile, Regina;
Burda, Patricie;
Froese, D.;
Suormala, Terttu;
Zeev, Bruria;
Chinnery, Patrick;
Dionisi-Vici, Carlo;
Dobbelaere, Dries;
Gökcay, Gülden;
Demirkol, Mübeccel;
Häberle, Johannes;
Lossos, Alexander;
Mengel, Eugen;
Morris, Andrew;
Niezen-Koning, Klary;
Plecko, Barbara;
Parini, Rossella;
Rokicki, Dariusz;
Schiff, Manuel

Publication type:

Article