Functional studies of new GLA gene mutations leading to conformational Fabry disease. - Wikidata - wikimedia - TriplyDB

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

http://www.wikidata.org/entity/Q34665552

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Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat Genetic screening of Fabry patients with EcoTILLING and HRM technology.Pain related channels are differentially expressed in neuronal and non-neuronal cells of glabrous skin of fabry knockout male mice Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.Pharmacological chaperone therapy for Fabry disease Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations A thermodynamic assay to test pharmacological chaperones for Fabry disease.Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases.Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new α-galactosidase mutation of Leu311Arg (L311R).Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

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P2860

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

http://www.wikidata.org/entity/Q34665552

description

2009 nî lūn-bûn

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2009年の論文

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2009年論文

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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Biochimica et Biophysica Acta

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P2860

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

Nucleotide sequence of the human alpha-galactosidase A gene

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.

Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

Quality control in the endoplasmic reticulum protein factory.

Cellular and tissue distribution of intravenously administered agalsidase alfa.

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