Works matching IS 01418955 AND DT 2010 AND VI 33 AND IP 4
Results: 20
Editorial overview: lysosomal storage disorders with primary neurological involvement.
- Published in:
- 2010
- By:
- Publication type:
- Editorial
Methodological improvement of publications in the JIMD.
- Published in:
- 2010
- By:
- 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:
- 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:
- 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:
- Publication type:
- Article
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:
- 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:
- 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:
- Publication type:
- Article
Response to: Hydroxocobalamin for cobalamin C: which dosage? by V. Wiwanitkit.
- Published in:
- 2010
- By:
- Publication type:
- Letter
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:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- 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:
- Publication type:
- Article
Hydroxocobalamin for cobalamin C: which dosage?
- Published in:
- 2010
- By:
- Publication type:
- Letter