This review examines the crucial roles of the choroid plexus (ChP) in central nervous system
(CNS) pathology, emphasizing its involvement in disease mechanisms and therapeutic …

Background Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major
neuronopathic component characterized by heparan sulfate (HS) accumulation due to …

Mucopolysaccharidosis 1 (MPS 1) is a group of rare lysosomal genetic disorders resulting
from the accumulation of undegraded glycosaminoglycans (GAGs) leading to multiorgan …

Abstract Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal disorder that
causes syndromes characterized by physiological dysfunction in many organs and tissues …

Objective To characterize the longitudinal natural history of disease progression in pediatric
subjects affected with mucopolysaccharidosis (MPS) IIIB. Study design Sixty-five children …

Inherited metabolic diseases (IMDs) are a group of heterogeneous genetic disorders
resulting in substrate accumulation, energy deficiency, or complex molecular defects due to …

Clinical research emphasizes the implementation of rigorous and reproducible study
designs that rely on between-group matching or controlling for sources of biological …

BACKGROUND. Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major
neuronopathic component characterized by heparan sulfate (HS) accumulation due to …

Background. Mucopolysaccharidoses are diseases from the group of lysosomal storage
diseases that have a progressive course. CNS damage is one of the main factors in the …

Обоснование. Мукополисахаридозы-заболевания из группы лизосомных болезней
накопления, имеющие прогрессирующее течение. Поражение центральной нервной …