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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 …
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 …
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 …
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 …
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 …
lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D …
Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB
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 …
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 …
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 …
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 …
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 …
recessive, lysosomal storage disease, characterized by the accumulation of heparan sulfate …