Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique
Abstract Introduction: Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally. GD is an autosomal recessive condition, which results from mutations in the GBA1 gene, causing partial or complete deficiency of β-gluco...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2021-02-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100501&tlng=en |