Volume 37; Issue 1

Journal of Inherited Metabolic Disease

Volume 37; Issue 1

1

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

Brennan, Paul, Parkes, Oliver

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 137 KB

english, 2014

2

Characterization of CoQ10biosynthesis in fibroblasts of patients with primary and secondary CoQ10deficiency

BujÃ¡n, Nuria, Arias, Angela, Montero, Raquel, GarcÃa-Villoria, Judit, Lissens, Willy, Seneca, Sara, EspinÃ³s, Carmen, Navas, PlÃ¡cido, Meirleir, Linda, Artuch, Rafael, Briones, Paz, Ribes, Antonia

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 310 KB

english, 2014

3

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

Baruteau, Julien, Sachs, Philippe, BrouÃ©, Pierre, Brivet, Michele, Abdoul, Hendy, Vianey-Saban, Christine, Ogier de Baulny, HÃ©lÃ¨ne

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 116 KB

english, 2014

4

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

Malm, Dag, Riise Stensland, Hilde Monica Frostad, Edvardsen, Ãyvind, Nilssen, Ãivind

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 162 KB

english, 2014

5

Concordance rates of Wilson’s disease phenotype among siblings

Grzegorz Chabik, Tomasz Litwin, Anna Członkowska

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 130 KB

english, 2014

6

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

Corinne M. Rüegger, Martin Lindner, Diana Ballhausen, Matthias R. Baumgartner, Skadi Beblo, Anibh Das, Matthias Gautschi, Esther M. Glahn, Sarah C. Grünert, Julia Hennermann, Michel Hochuli, Martina H

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 350 KB

english, 2014

7

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 114 KB

english, 2014

8

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

James E. Wraith, Frédéric Sedel, Mercèdes Pineda, Frits A. Wijburg, Christian J. Hendriksz, Michael Fahey, Mark Walterfang, Marc C. Patterson, Harbajan Chadha-Boreham, Stefan A. Kolb…show all 10hide

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 642 KB

english, 2014

9

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 267 KB

english, 2014

10

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 842 KB

english, 2014

11

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 442 KB

english, 2014

12

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

Sean N. Prater, Suhrad G. Banugaria, Claire Morgan, Crystal C. Sung, Amy S. Rosenberg, Priya S. Kishnani

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 139 KB

english, 2014

13

Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 51 KB

english, 2014

14

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

Archer, Louise D., Langford-Smith, Kia J., Bigger, Brian W., Fildes, James E.

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 440 KB

english, 2014

15

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 59 KB

english, 2014

16

Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits

Hautman, Emily R., Kokenge, Amanda N., Udobi, Kenea C., Williams, Michael T., Vorhees, Charles V., Skelton, Matthew R.

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 691 KB

english, 2014

17

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

Cologna, Stephanie M., Cluzeau, Celine V. M., Yanjanin, Nicole M., Blank, Paul S., Dail, Michelle K., Siebel, Stephan, Toth, Cynthia L., Wassif, Christopher A., Lieberman, Andrew P., Porter, Forbes D.

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 329 KB

english, 2014

18

Early cardiovascular remodelling in Fabry disease

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 392 KB

english, 2014

19

Mosaic tissue distribution of the tandem duplication ofLAMP2exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics

Filip Majer,Ondrej Pelak,Tomas Kalina…

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 520 KB

english, 2014

20

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

Coelho, Ana I., Ramos, Ruben, Gaspar, Ana, Costa, Cláudia, Oliveira, Anabela, Diogo, Luísa, Garcia, Paula, Paiva, Sandra, Martins, Esmeralda, Teles, Elisa Leão, Rodrigues, Esmeralda, Cardoso, M. Teres

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 201 KB

english, 2014

21

Glutathione metabolism in cobalamin deficiency type C (cblC)

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 405 KB

english, 2014

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