Pilar Alfonso

Zaragoza, AR, Spain

Last Updated: 09/26/2026

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Found 14 publications

Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients.

Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients.

Journal: Medicina clinica

Published: October 22, 2019

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.

Journal: Orphanet journal of rare diseases

Published: August 25, 2016

Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project.

Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project.

Journal: Blood cells, molecules & diseases

Published: August 21, 2016

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.

Journal: Molecular genetics and metabolism

Published: November 15, 2015

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases.

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases.

Journal: Journal of lipid research

Published: November 03, 2015

Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.

Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.

Journal: PloS one

Published: October 07, 2015

New mutation in a young woman diagnosed with Niemann-Pick disease type C

New mutation in a young woman diagnosed with Niemann-Pick disease type C

Journal: Medicina clinica

Published: September 02, 2015

Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease.

Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease.

Journal: Blood cells, molecules & diseases

Published: March 16, 2014

Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring.

Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring.

Journal: Clinical biochemistry

Published: April 09, 2013

Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

Journal: Human mutation

Published: March 27, 2013

Bicyclic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of Gaucher disease.

Bicyclic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of Gaucher disease.

Journal: Chembiochem : a European journal of chemical biology

Published: November 14, 2012

Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population.

Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population.

Journal: Clinical genetics

Published: January 07, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026