Abstract Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive
disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase …

Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative
lysosomal storage disorders that is characterized by childhood dementia. The clinical …

The mucopolysaccharidoses (MPS) are a group of diseases caused by the lysosomal
accumulation of glycosaminoglycans, due to genetic deficiencies of enzymes involved in …

Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is
no consensus on their definition across the region. Patients with RDs face a diagnostic …

O estudo analisa os gastos da judicialização de medicamentos para a mucopolissacaridose
(MPS), uma doença rara, de alto custo, fora da política de assistência farmacêutica e com …

The mucopolysaccharidoses (MPSs) are a group of rare genetic disorders of
glycosaminoglycan catabolism, caused by a deficiency of lysosomal enzymes required for …

Abstract Mucopolysaccharidosis II (MPS II), or Hunter syndrome, is an X-linked lysosomal
storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase. Affected …

Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I
(MPS I), an inherited lysosomal storage disorder. Only small patient series have previously …

Several studies have been published on the frequency of the mucopolysaccharidoses
(MPS) in different countries. The objective of the present study was to estimate the birth …

Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases
(BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and …