Open AccessPitfalls in the diagnosis of Gaucher disease in Iraq: A diagnostic experience from a developing country
Author(s) -
Rabab Farhan Thejeal,
Saja Baheer Abdul Wahhab,
Nebal Waill Saadi
Publication year - 2021
Publication title -
pakistan journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.316
H-Index - 30
eISSN - 1682-024X
pISSN - 1681-715X
DOI - 10.12669/pjms.37.3.2930
Subject(s) - medicine , disease , enzyme replacement therapy , pediatrics
Gaucher disease (GD) is a rare hereditary disorder caused by deficiency of the lysosomal enzyme β-glucocerebrosidase. An early and definitive diagnosis minimizes the sequelae of misdiagnoses, and unnecessary and invasive diagnostic procedures.