Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in
humans (or 14 diseases if considering one MPS type described to date only in mice) in …

Mucopolysaccharidosis type VI, or Maroteaux–Lamy syndrome, is a rare, autosomal
recessive genetic disease, mainly affecting the pediatric age group. The disease is due to …

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting
enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel …

Abstract Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD)
caused by mutations in gene encoding for GALNS enzyme. Lack of GALNS activity leads to …

Abstract Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal
recessive lysosomal storage disorder caused by mutations in the N‐acetylgalactosamine‐6 …

The last few decades have been marked by the identification of numerous genes implicated
in genetic disorders, helping in the elucidation of the underlying pathophysiology of these …

Current specific treatments for mucopolysaccharidoses (MPSs) include enzyme replacement
therapy (ERT) and hematopoietic stem cell transplantation (HSCT). Both treatments are …

GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders:
GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 …

Gene Therapy for Mucopolysaccharidosis Type VI In this open-label gene therapy study,
infusions for MPS type VI occurred without severe adverse events. In the high-dose cohort …

Objective To characterize treatment decision‐making processes and formalize consensus
regarding key factors headache specialists consider in treatment decisions for patients with …