Works matching IS 01418955 AND DT 2015 AND VI 38 AND IP 6

Results: 18

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1041, doi. 10.1007/s10545-015-9839-3
By:
- Kölker, Stefan;
- Cazorla, Angeles;
- Valayannopoulos, Vassili;
- Lund, Allan;
- Burlina, Alberto;
- Sykut-Cegielska, Jolanta;
- Wijburg, Frits;
- Teles, Elisa;
- Zeman, Jiri;
- Dionisi-Vici, Carlo;
- Barić, Ivo;
- Karall, Daniela;
- Augoustides-Savvopoulou, Persephone;
- Aksglaede, Lise;
- Arnoux, Jean-Baptiste;
- Avram, Paula;
- Baumgartner, Matthias;
- Blasco-Alonso, Javier;
- Chabrol, Brigitte;
- Chakrapani, Anupam
Publication type:
Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1059, doi. 10.1007/s10545-015-9840-x
By:
- Kölker, Stefan;
- Valayannopoulos, Vassili;
- Burlina, Alberto;
- Sykut-Cegielska, Jolanta;
- Wijburg, Frits;
- Teles, Elisa;
- Zeman, Jiri;
- Dionisi-Vici, Carlo;
- Barić, Ivo;
- Karall, Daniela;
- Arnoux, Jean-Baptiste;
- Avram, Paula;
- Baumgartner, Matthias;
- Blasco-Alonso, Javier;
- Boy, S.;
- Rasmussen, Marlene;
- Burgard, Peter;
- Chabrol, Brigitte;
- Chakrapani, Anupam;
- Chapman, Kimberly
Publication type:
Article
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1029, doi. 10.1007/s10545-015-9843-7
By:
- Miller, Marcus;
- Kennedy, Adam;
- Eckhart, Andrea;
- Burrage, Lindsay;
- Wulff, Jacob;
- Miller, Luke;
- Milburn, Michael;
- Ryals, John;
- Beaudet, Arthur;
- Sun, Qin;
- Sutton, V.;
- Elsea, Sarah
Publication type:
Article
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1129, doi. 10.1007/s10545-015-9845-5
By:
- Schiffmann, Raphael;
- Swift, Caren;
- Wang, Xuan;
- Blankenship, Derek;
- Ries, Markus
Publication type:
Article
Secondary NAD deficiency in the inherited defect of glutamine synthetase.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1075, doi. 10.1007/s10545-015-9846-4
By:
- Hu, Liyan;
- Ibrahim, Khalid;
- Stucki, Martin;
- Frapolli, Michele;
- Shahbeck, Noora;
- Chaudhry, Farrukh;
- Görg, Boris;
- Häussinger, Dieter;
- Penberthy, W.;
- Ben-Omran, Tawfeg;
- Häberle, Johannes
Publication type:
Article
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1085, doi. 10.1007/s10545-015-9849-1
By:
- Casey, Jillian;
- Slattery, Suzanne;
- Cotter, Melanie;
- Monavari, A.;
- Knerr, Ina;
- Hughes, Joanne;
- Treacy, Eileen;
- Devaney, Deirdre;
- McDermott, Michael;
- Laffan, Eoghan;
- Wong, Derek;
- Lynch, Sally;
- Bourke, Billy;
- Crushell, Ellen
Publication type:
Article
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1109, doi. 10.1007/s10545-015-9854-4
By:
- Torres, R.;
- Puig, J.
Publication type:
Article
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1099, doi. 10.1007/s10545-015-9856-2
By:
- Haliloglu, Goknur;
- Talim, Beril;
- Sel, Cigdem;
- Topaloglu, Haluk
Publication type:
Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1147, doi. 10.1007/s10545-015-9857-1
By:
- Debray, François-Guillaume;
- Stümpfig, Claudia;
- Vanlander, Arnaud;
- Dideberg, Vinciane;
- Josse, Claire;
- Caberg, Jean-Hubert;
- Boemer, François;
- Bours, Vincent;
- Stevens, René;
- Seneca, Sara;
- Smet, Joél;
- Lill, Roland;
- Coster, Rudy
Publication type:
Article
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1119, doi. 10.1007/s10545-015-9862-4
By:
- Borgwardt, L.;
- Thuesen, A.;
- Olsen, K.;
- Fogh, J.;
- Dali, C.;
- Lund, A.
Publication type:
Article
Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1021, doi. 10.1007/s10545-015-9863-3
By:
- Leipnitz, Guilhian;
- Vargas, Carmen;
- Wajner, Moacir
Publication type:
Article
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1093, doi. 10.1007/s10545-015-9864-2
By:
- Hochuli, Michel;
- Christ, Emanuel;
- Meienberg, Fabian;
- Lehmann, Roger;
- Krützfeldt, Jan;
- Baumgartner, Matthias
Publication type:
Article
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
Published in:
2015
By:
- Kölker, Stefan;
- Cazorla, Angeles;
- Valayannopoulos, Vassili;
- Lund, Allan;
- Burlina, Alberto;
- Sykut-Cegielska, Jolanta;
- Wijburg, Frits;
- Teles, Elisa;
- Zeman, Jiri;
- Dionisi-Vici, Carlo;
- Barić, Ivo;
- Karall, Daniela;
- Augoustides-Savvopoulou, Persephone;
- Aksglaede, Lise;
- Arnoux, Jean-Baptiste;
- Avram, Paula;
- Baumgartner, Matthias;
- Blasco-Alonso, Javier;
- Chabrol, Brigitte;
- Chakrapani, Anupam
Publication type:
Erratum
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Published in:
2015
By:
- Kölker, Stefan;
- Valayannopoulos, Vassili;
- Burlina, Alberto;
- Sykut-Cegielska, Jolanta;
- Wijburg, Frits;
- Teles, Elisa;
- Zeman, Jiri;
- Dionisi-Vici, Carlo;
- Barić, Ivo;
- Karall, Daniela;
- Arnoux, Jean-Baptiste;
- Avram, Paula;
- Baumgartner, Matthias;
- Blasco-Alonso, Javier;
- Boy, S.;
- Rasmussen, Marlene;
- Burgard, Peter;
- Chabrol, Brigitte;
- Chakrapani, Anupam;
- Chapman, Kimberly
Publication type:
Erratum
Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1137, doi. 10.1007/s10545-015-9874-0
By:
- Himmelreich, Nastassja;
- Kaufmann, Lilian;
- Steinbeisser, Herbert;
- Körner, Christian;
- Thiel, Christian
Publication type:
Article
Elisabeth Holme.
Published in:
2015
By:
- Kollberg, Gittan;
- Clayton, Peter
Publication type:
Editorial
Quo vadis: the re-definition of 'inborn metabolic diseases'.
Published in:
2015
By:
- Morava, Eva;
- Rahman, Shamima;
- Peters, Verena;
- Baumgartner, Matthias;
- Patterson, Marc;
- Zschocke, Johannes
Publication type:
Editorial
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Published in:
Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1007, doi. 10.1007/s10545-015-9830-z
By:
- Huemer, Martina;
- Kožich, Viktor;
- Rinaldo, Piero;
- Baumgartner, Matthias;
- Merinero, Begoña;
- Pasquini, Elisabetta;
- Ribes, Antonia;
- Blom, Henk
Publication type:
Article