Works matching IS 01418955 AND DT 2014 AND VI 37 AND IP 1

Results: 21

Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 1, doi. 10.1007/s10545-013-9613-3

By:

Archer, Louise;
Langford-Smith, Kia;
Bigger, Brian;
Fildes, James

Publication type:

Article

Characterization of CoQ biosynthesis in fibroblasts of patients with primary and secondary CoQ deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 53, doi. 10.1007/s10545-013-9620-4

By:

Buján, Nuria;
Arias, Angela;
Montero, Raquel;
García-Villoria, Judit;
Lissens, Willy;
Seneca, Sara;
Espinós, Carmen;
Navas, Plácido;
Meirleir, Linda;
Artuch, Rafael;
Briones, Paz;
Ribes, Antonia

Publication type:

Article

Early cardiovascular remodelling in Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 109, doi. 10.1007/s10545-013-9607-1

By:

Costanzo, Luca;
Buccheri, Sergio;
Capranzano, Piera;
Pino, Luigi;
Curatolo, Giuseppina;
Rodolico, Margherita;
Leggio, Stefano;
Blundo, Anita;
Tamburino, Corrado;
Monte, Ines

Publication type:

Article

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 83, doi. 10.1007/s10545-013-9610-6

By:

Cologna, Stephanie;
Cluzeau, Celine;
Yanjanin, Nicole;
Blank, Paul;
Dail, Michelle;
Siebel, Stephan;
Toth, Cynthia;
Wassif, Christopher;
Lieberman, Andrew;
Porter, Forbes

Publication type:

Article

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease.

Published in:

2014

By:

Pisani, Antonio;
Porto, Caterina;
Andria, Generoso;
Parenti, Giancarlo

Publication type:

Letter

Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.

Published in:

2014

By:

Weinreb, Neal;
Goldblatt, Jack;
Villalobos, Jacobo;
Charrow, Joel;
Cole, J.;
Kerstenetzky, Marcelo;
Dahl, Stephan;
Hollak, Carla

Publication type:

Correction Notice

Case-finding in Fabry disease: experience from the North of England.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 103, doi. 10.1007/s10545-013-9629-8

By:

Brennan, Paul;
Parkes, Oliver

Publication type:

Article

C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 13, doi. 10.1007/s10545-013-9632-0

By:

Marlaire, Simon;
Schaftingen, Emile;
Veiga-da-Cunha, Maria

Publication type:

Article

The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 79, doi. 10.1007/s10545-013-9622-2

By:

Malm, Dag;
Riise Stensland, Hilde;
Edvardsen, Øyvind;
Nilssen, Øivind

Publication type:

Article

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 117, doi. 10.1007/s10545-013-9617-z

By:

Majer, Filip;
Pelak, Ondrej;
Kalina, Tomas;
Vlaskova, Hana;
Dvorakova, Lenka;
Honzik, Tomas;
Palecek, Tomas;
Kuchynka, Petr;
Masek, Martin;
Zeman, Jiri;
Elleder, Milan;
Sikora, Jakub

Publication type:

Article

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

Published in:

2014

By:

Baruteau, Julien;
Sachs, Philippe;
Broué, Pierre;
Brivet, Michele;
Abdoul, Hendy;
Vianey-Saban, Christine;
Ogier de Baulny, Hélène

Publication type:

Letter

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 93, doi. 10.1007/s10545-013-9626-y

By:

Wraith, James;
Sedel, Frédéric;
Pineda, Mercèdes;
Wijburg, Frits;
Hendriksz, Christian;
Fahey, Michael;
Walterfang, Mark;
Patterson, Marc;
Chadha-Boreham, Harbajan;
Kolb, Stefan

Publication type:

Article

Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 63, doi. 10.1007/s10545-013-9619-x

By:

Hautman, Emily;
Kokenge, Amanda;
Udobi, Kenea;
Williams, Michael;
Vorhees, Charles;
Skelton, Matthew

Publication type:

Article

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 43, doi. 10.1007/s10545-013-9623-1

By:

Coelho, Ana;
Ramos, Ruben;
Gaspar, Ana;
Costa, Cláudia;
Oliveira, Anabela;
Diogo, Luísa;
Garcia, Paula;
Paiva, Sandra;
Martins, Esmeralda;
Teles, Elisa;
Rodrigues, Esmeralda;
Cardoso, M.;
Ferreira, Elena;
Sequeira, Sílvia;
Leite, Margarida;
Silva, Maria;
Almeida, Isabel;
Vicente, João;
Rivera, Isabel

Publication type:

Article

Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 69, doi. 10.1007/s10545-013-9630-2

By:

Abelin Genevois, Kariman;
Garin, Christophe;
Solla, Federico;
Guffon, Nathalie;
Kohler, Rémi

Publication type:

Article

Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 31, doi. 10.1007/s10545-013-9621-3

By:

Zwickler, Tamaris;
Riderer, Alina;
Haege, Gisela;
Hoffmann, Georg;
Kölker, Stefan;
Burgard, Peter

Publication type:

Article

Letter to the Editors: Concerning 'CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy' by Al Khallaf et al.

Published in:

2014

By:

Prater, Sean;
Banugaria, Suhrad;
Morgan, Claire;
Sung, Crystal;
Rosenberg, Amy;
Kishnani, Priya

Publication type:

Letter

Glutathione metabolism in cobalamin deficiency type C (cblC).

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 125, doi. 10.1007/s10545-013-9605-3

By:

Pastore, Anna;
Martinelli, Diego;
Piemonte, Fiorella;
Tozzi, Giulia;
Boenzi, Sara;
Giovamberardino, Gianna;
Petrillo, Sara;
Bertini, Enrico;
Dionisi-Vici, Carlo

Publication type:

Article

Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 39, doi. 10.1007/s10545-013-9627-x

By:

Yano, Shoji;
Moseley, Kathryn;
Bottiglieri, Teodoro;
Arning, Erland;
Azen, Colleen

Publication type:

Article

Concordance rates of Wilson's disease phenotype among siblings.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 131, doi. 10.1007/s10545-013-9625-z

By:

Chabik, Grzegorz;
Litwin, Tomasz;
Członkowska, Anna

Publication type:

Article

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 21, doi. 10.1007/s10545-013-9624-0

By:

Rüegger, Corinne;
Lindner, Martin;
Ballhausen, Diana;
Baumgartner, Matthias;
Beblo, Skadi;
Das, Anibh;
Gautschi, Matthias;
Glahn, Esther;
Grünert, Sarah;
Hennermann, Julia;
Hochuli, Michel;
Huemer, Martina;
Karall, Daniela;
Kölker, Stefan;
Lachmann, Robin;
Lotz-Havla, Amelie;
Möslinger, Dorothea;
Nuoffer, Jean-Marc;
Plecko, Barbara;
Rutsch, Frank

Publication type:

Article