Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics.

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Article

Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics.

Haematologica - 1 Aug 2000

Giraldo P, Pocoví M, Pérez-Calvo J, Rubio-Félix D, Giralt M

Abstract excerpt

BACKGROUND AND OBJECTIVES: Since 1993 the demographic, clinical, analytical, genetic and follow-up data of Spanish patients with Gaucher's disease (GD) have been collected in an anonymous national database. Some statistical analyses of these data are reported concerning the distribution, clinical and genetic characteristics of GD in Spain and the response to enzyme replacement therapy (ERT) is evaluated. DESIGN...

Topics

Adolescent
Adult
Age Distribution
Alleles
Amino Acid Substitution
Anthropometry
Child
Child, Preschool
Cohort Studies
Combined Modality Therapy
Female
Gaucher Disease
Gene Frequency
Genotype
Glucosylceramidase
Humans
Infant
Male

Source

Open in PubMed

Identifiers

PMID: 10942924

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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