1. Abstract Knowledge of Gaucher disease (GD) has increased substantially, and its underlying mechanisms are better understood. Specific treatments especially for Type 1 GD can control many disease manifestations. However, […]

Abstract Inborn errors of metabolism (IEMs) are a group of congenital, chronic genetic disorders that create significant challenges for affected children and their parents. This integrative review aimed to identify […]

Abstract Gaucher disease type 3 (GD3) is a rare lysosomal storage disease characterized by neurological and systemic manifestations. Ataxia, cognitive impairment, and other symptoms can significantly affect patients’ daily activities […]

1. Introduction Achondroplasia is the most common skeletal dysplasia associated with disproportionate short stature, affecting more than 360,000 people worldwide. It is a hereditary condition caused by impaired endochondral ossification, […]

1. Introduction and Overview Achondroplasia is the most common form of skeletal dysplasia associated with disproportionate short stature. It is characterized by short limbs relative to the trunk, macrocephaly, midface […]

1. Introduction Phenylketonuria (PKU) is an autosomal recessive inherited metabolic disorder caused by deficiency of phenylalanine hydroxylase (PAH), the enzyme responsible for converting phenylalanine (Phe) into tyrosine. This deficiency leads […]

1. Background Inborn errors of metabolism (IEMs) are a heterogeneous group of genetic disorders caused by defects in genes responsible for producing enzymes that facilitate metabolic reactions. These defects interfere […]

Duchenne Muscular Dystrophy: Integrating Current Clinical Practice with Future Therapeutic and Diagnostic Horizons  1. Epidemiology and Pathophysiology Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked disorder caused by mutations […]

1. Overview and causes of PKU Phenylketonuria (PKU) is an autosomal recessive inborn error of amino acid metabolism caused by a deficiency of the enzyme L-phenylalanine-4-hydroxylase (PAH) or, in a […]

Introduction Improved early diagnosis and treatment of phenylketonuria (PKU) has allowed patients to survive into adulthood without the severe neurological complications associated with untreated disease. However, several non-neurological health problems […]