Publications by authors named "Rabab Farhan Thejeal"
Article Synopsis
- Maroteaux-Lamy syndrome (MPS VI) is a rare chronic condition that affects various body systems, typically showing early signs within the first few months of life, often leading to significant tissue and organ dysfunction.
- A study conducted at a hospital in Iraq over approximately six years recruited 72 patients under the age of 20, aiming to gather data on their demographics, clinical features, and genetic mutations associated with the disease.
- Key findings revealed a high rate of consanguinity among patients, with common symptoms including coarse facial features and growth deficiencies, and identified a specific genetic mutation as prevalent among those studied, highlighting a link between poorer growth metrics and disease severity.
Background And Objectives: 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.
Methods: A cross-sectional descriptive study was conducted in the period from June to August, 2018, to analysing data of thirteen patients, retrospectively.
Background: Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator () gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq.
View Article and Find Full Text PDFBackground And Objective: Gaucher disease is the most common inherited lysosomal storage disorder. It is a multi organ disease affecting bone marrow, liver, spleen, lungs, and other organs contributes to pancytopenia and massive hepatosplenomegaly. This study aimed to spotlight on clinical and laboratory characteristics of children with Gaucher disease to raise awareness among physicians about the disease and to evaluate the outcome of enzyme replacement therapy (ERT).
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