Sanfilippo syndrome: a mini-review

MJ Valstar, GJG Ruijter, OP Van Diggelen… - Journal of inherited …, 2008 - Springer
Summary Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal
recessive disorder, caused by a deficiency in one of the four enzymes involved in the …

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

G Yogalingam, JJ Hopwood - Human mutation, 2001 - Wiley Online Library
Abstract Mucopolysaccharidosis (MPS) types IIIA, B, C, and D are a group of autosomal
recessive lysosomal storage diseases caused by mutations in one of four genes which …

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype‐phenotype correlations

MJ Valstar, S Neijs, HT Bruggenwirth… - Annals of …, 2010 - Wiley Online Library
Abstract Objective Mucopolysaccharidosis (MPS) IIIA (Sanfilippo syndrome type A) is a
lysosomal storage disorder caused by deficiency of the enzyme sulfamidase. Information on …

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

B Héron, Y Mikaeloff, R Froissart… - American journal of …, 2011 - Wiley Online Library
Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage
disease with predominant neurological manifestations in affected children. It is considered …

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

MJ Valstar, HT Bruggenwirth, R Olmer… - Journal of inherited …, 2010 - Springer
Abstract Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a
lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D …

Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB

R Petrova, AR Patil, V Trinh, KE McElroy, M Bhakta… - Scientific Reports, 2023 - nature.com
Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare and devastating childhood-
onset lysosomal storage disease caused by complete loss of function of the lysosomal …

[HTML][HTML] Mucopolisacaridosis: características clínicas, diagnóstico y de manejo

JL Suarez-Guerrero, PJIG Higuera, JSA Flórez… - Revista chilena de …, 2016 - Elsevier
Las mucopolisacaridosis (MPS) son un grupo de enfermedades raras (huérfanas), de baja
prevalencia, caracterizadas por la deficiencia de enzimas que participan en el metabolismo …

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

A Zanetti, F D'Avanzo, L Rigon, A Rampazzo… - European Journal of …, 2019 - Springer
Mucopolysaccharidoses (MPS) are a subgroup of 11 monogenic lysosomal storage
disorders due to the deficit of activity of the lysosomal hydrolases deputed to the degradation …

A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: implications for clinical trial design

KV Truxal, H Fu, DM McCarty, KA McNally… - Molecular genetics and …, 2016 - Elsevier
Mucopolysaccharidosis type III is a group of four autosomal recessive enzyme deficiencies
leading to tissue accumulation of heparan sulfate. Central nervous system disease is …

A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant

R Bhattacharyya, B Gliddon, T Beccari… - …, 2001 - academic.oup.com
Sanfilippo syndrome type III A (Mucopolysaccharidosis (MPS) III A) is a rare, autosomal
recessive, lysosomal storage disease, characterized by the accumulation of heparan sulfate …