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

Results: 18

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

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

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

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