Found: 20
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Isolation and characterization of the normal canine β-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 593, doi. 10.1023/A:1005630013448
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- Publication type:
- Article
Animal models for lysosomal storage disorders.
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- Biochemistry (00062979), 2013, v. 78, n. 7, p. 721, doi. 10.1134/S0006297913070043
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- Publication type:
- Article
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.
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- Clinical Genetics, 2008, v. 73, n. 5, p. 430, doi. 10.1111/j.1399-0004.2008.00978.x
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- Publication type:
- Article
Imiglucerase (Cerezyme<sup>®</sup>) improves quality of life in patients with skeletal manifestations of Gaucher disease.
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- Clinical Genetics, 2007, v. 71, n. 6, p. 576, doi. 10.1111/j.1399-0004.2007.00811.x
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- Publication type:
- Article
A questionnaire study for 128 patients with Gaucher disease.
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- Clinical Genetics, 2006, v. 69, n. 3, p. 209, doi. 10.1111/j.1399-0004.2006.00573.x
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- Publication type:
- Article
Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17.
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- Cerebellum, 2019, v. 18, n. 3, p. 654, doi. 10.1007/s12311-018-0998-2
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- Publication type:
- Article
The health-related quality of life of adults with Gaucher‘s disease receiving enzyme replacement therapy: results from a retrospective study.
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- Quality of Life Research, 1998, v. 7, n. 5, p. 373, doi. 10.1023/A:1008814105603
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- Publication type:
- Article
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources.
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- 1995
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- Publication type:
- journal article
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
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- 2006
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- Publication type:
- Journal Article
Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 961, doi. 10.1007/s10545-014-9693-8
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- Publication type:
- Article
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 969, doi. 10.1007/s10545-014-9717-4
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- Publication type:
- Article
Greater risk of parkinsonism associated with non-N370S GBA1 mutations.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 575, doi. 10.1007/s10545-012-9527-5
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- Publication type:
- Article
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 643, doi. 10.1007/s10545-011-9313-9
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- Publication type:
- Article
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 319, doi. 10.1007/s10545-008-0779-z
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- Publication type:
- Article
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 817, doi. 10.1007/s10545-007-0582-2
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- Publication type:
- Article
Globoid cell leukodystrophy (Krabbe disease): Normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.
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- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 1005, doi. 10.1007/s10545-005-4138-z
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- Publication type:
- Article
A neurological symptom survey of patients with type I Gaucher disease.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 641, doi. 10.1023/B:BOLI.0000005623.60471.51
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- Publication type:
- Article
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 513, doi. 10.1023/A:1025902113005
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- Publication type:
- Article
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 557, doi. 10.1023/A:1022091223498
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- Publication type:
- Article
Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 2, p. 131, doi. 10.1023/A:1015680827730
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- Publication type:
- Article