Article
Baseline characteristics of 32 patients with Gaucher disease who were treated with imiglucerase: South African data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 2 Feb 2022
Sevittz H, Laher F, Varughese S T, Nel M, McMaster A, Jacobson B F
Abstract excerpt
BACKGROUND: Gaucher disease (GD) is a rare inherited autosomal recessive metabolic disorder with a prevalence in the general population of ~1 per 100 000. To optimise the recognition, diagnosis and management of patients with GD in South Africa (SA), it is important to have an understanding of local patterns of presentation of the disease. OBJECTIVES: To describe the baseline pretreatment characteristics of the...
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