Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.

doi:10.1038/sj.ejhg.5200845

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.

European journal of human genetics : EJHG - 1 Sept 2002

Drugan Cristina, Procopciuc Lucia, Jebeleanu Gheorghe, Grigorescu-Sido Paula, Dussau Jane, Poenaru Livia, Caillaud Catherine

Abstract excerpt

Gaucher disease (GD) is an inherited glycolipid storage disorder resulting from the deficiency of glucocerebrosidase. It is the most frequent lysosomal storage disease in Romania, accounting for 70% of all lysosomal disorders diagnosed since 1997 in this country. The prevalence of six common mutations (N370S, L444P, R463C, 84GG, recNciI and recTL) and their phenotypic impact were studied in 20 type 1 GD patients...

Topics

Alleles
Amino Acid Substitution
DNA
DNA Primers
Ethnicity
Gaucher Disease
Genotype
Glucosylceramidase
Humans
Mutation
Phenotype
Polymerase Chain Reaction
Romania

Source

Open in PubMed

Identifiers

PMID: 12173027
DOI: 10.1038/sj.ejhg.5200845

Provenance

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics