Works matching IS 01418955 AND DT 2010 AND VI 33 AND IP 4

Results: 20

Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 363, doi. 10.1007/s10545-010-9078-6

By:

Hemsley, Kim;
Hopwood, John

Publication type:

Article

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 339, doi. 10.1007/s10545-009-9009-6

By:

Tylki-Szymańska, Anna;
Vellodi, Ashok;
El-Beshlawy, Amal;
Cole, J.;
Kolodny, Edwin

Publication type:

Article

Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 451, doi. 10.1007/s10545-010-9108-4

By:

Witters, Peter;
Pirenne, Jacques;
Aerts, Raymond;
Monbaliu, Diethard;
Nevens, Frederik;
Verslype, Chris;
Laleman, Wim;
Roskams, Tania;
Desmet, Lars;
Vlasselaers, Dirk;
Mariën, Paul;
Hoffman, Ilse;
Lombaerts, Rita;
Goethals, Eveline;
Jaeken, Jaak;
Meersseman, Wouter;
Cassiman, David

Publication type:

Article

Response to: Hydroxocobalamin for cobalamin C: which dosage? by V. Wiwanitkit.

Published in:

2010

By:

Carrillo-Carrasco, Nuria;
Venditti, Charles

Publication type:

Letter

Editorial overview: lysosomal storage disorders with primary neurological involvement.

Published in:

2010

By:

Pastores, Gregory;
Hughes, Derralynn

Publication type:

Editorial

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 421, doi. 10.1007/s10545-010-9113-7

By:

Thomas, Janet;
Beck, Michael;
Clarke, Joe;
Cox, Gerald

Publication type:

Article

Methodological improvement of publications in the JIMD.

Published in:

2010

By:

Burgard, Peter

Publication type:

Editorial

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 387, doi. 10.1007/s10545-010-9093-7

By:

Poupětová, Helena;
Ledvinová, Jana;
Berná, Linda;
Dvořáková, Lenka;
Kožich, Viktor;
Elleder, Milan

Publication type:

Article

Clinical aspects of neuropathic lysosomal storage disorders.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 315, doi. 10.1007/s10545-010-9079-5

By:

Jardim, Laura;
Villanueva, Maria;
Souza, Carolina;
Netto, Cristina

Publication type:

Article

A modified lipid composition in Fabry disease leads to an intracellular block of the detergent-resistant membrane-associated dipeptidyl peptidase IV.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 445, doi. 10.1007/s10545-010-9114-6

By:

Maalouf, Katia;
Jia, Jia;
Rizk, Sandra;
Brogden, Graham;
Keiser, Markus;
Das, Anibh;
Naim, Hassan

Publication type:

Article

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 437, doi. 10.1007/s10545-010-9126-2

By:

Niu, Dau-Ming;
Chong, Kah-Wai;
Hsu, Ju-Hui;
Wu, Tina;
Yu, Hsiao-Chi;
Huang, Cheng-Hung;
Lo, Ming-Yu;
Kwok, Ching;
Kratz, Lisa;
Ho, Low-Tone

Publication type:

Article

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 405, doi. 10.1007/s10545-010-9097-3

By:

Puisac, Beatriz;
Arnedo, María;
Casale, Cesar;
Ribate, María;
Castiella, Tomás;
Ramos, Feliciano;
Ribes, Antonia;
Pérez-Cerdá, Celia;
Casals, Nuria;
Hegardt, Fausto;
Pié, Juan

Publication type:

Article

Newborn screening for neuropathic lysosomal storage disorders.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 381, doi. 10.1007/s10545-010-9130-6

By:

Hwu, Wuh-Liang;
Chien, Yin-Hsiu;
Lee, Ni-Chung

Publication type:

Article

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 331, doi. 10.1007/s10545-010-9095-5

By:

Chérin, P.;
Rose, C.;
Roux-Serratrice, C.;
Tardy, D.;
Dobbelaere, D.;
Grosbois, B.;
Hachulla, E.;
Jaussaud, R.;
Javier, R.-M.;
Noël, E.;
Clerson, P.;
Hartmann, A.

Publication type:

Article

Therapeutic approaches for neuronopathic lysosomal storage disorders.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 373, doi. 10.1007/s10545-010-9047-0

By:

Schiffmann, Raphael

Publication type:

Article

Pathophysiology of neuropathic lysosomal storage disorders.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 347, doi. 10.1007/s10545-010-9075-9

By:

Bellettato, Cinzia;
Scarpa, Maurizio

Publication type:

Article

Fumaric aciduria: an overview and the first Brazilian case report.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 411, doi. 10.1007/s10545-010-9134-2

By:

Allegri, Gabriella;
Fernandes, Marcia;
Scalco, Fernanda;
Correia, Patricia;
Simoni, Ruth;
Llerena, Juan;
Oliveira, Maria

Publication type:

Article

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 429, doi. 10.1007/s10545-010-9133-3

By:

Segal, Perri;
Kohn, Yoav;
Pollak, Yehuda;
Altarescu, Gheona;
Galili-Weisstub, Esti;
Raas-Rothschild, Annick

Publication type:

Article

Present and future of antisense therapy for splicing modulation in inherited metabolic disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 397, doi. 10.1007/s10545-010-9135-1

By:

Pérez, Belen;
Rodríguez-Pascau, Laura;
Vilageliu, Luisa;
Grinberg, Daniel;
Ugarte, Magdalena;
Desviat, Lourdes

Publication type:

Article

Hydroxocobalamin for cobalamin C: which dosage?

Published in:

2010

By:

Wiwanitkit, Viroj

Publication type:

Letter