Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
EA Braunlin, PR Harmatz, M Scarpa… - Journal of inherited …, 2011 - Springer
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by
the absence of functional enzymes that contribute to the degradation of glycosaminoglycans …
the absence of functional enzymes that contribute to the degradation of glycosaminoglycans …
Mucopolysaccharidosis vi
V Valayannopoulos, H Nicely, P Harmatz… - Orphanet journal of rare …, 2010 - Springer
Abstract Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with
progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading …
progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading …
Management guidelines for mucopolysaccharidosis VI
R Giugliani, P Harmatz, JE Wraith - Pediatrics, 2007 - publications.aap.org
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that
is characterized by systemic clinical manifestations and significant functional impairment …
is characterized by systemic clinical manifestations and significant functional impairment …
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
R Giugliani, A Federhen, MV Muñoz Rojas… - … and molecular biology, 2010 - SciELO Brasil
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of
the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This …
the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This …
[HTML][HTML] The natural history of neurocognition in MPS disorders: a review
MPS disorders are associated with a wide spectrum of neurocognitive effects, from mild
problems with attention and executive functions to progressive and degenerative …
problems with attention and executive functions to progressive and degenerative …
Glycosaminoglycan storage disorders: a review
MF Coutinho, L Lacerda, S Alves - Biochemistry research …, 2012 - Wiley Online Library
Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal
accumulation of undegraded products causes a group of lysosomal storage disorders …
accumulation of undegraded products causes a group of lysosomal storage disorders …
Clinical presentation and diagnosis of mucopolysaccharidoses
M Stapleton, N Arunkumar, F Kubaski… - Molecular genetics and …, 2018 - Elsevier
Mucopolysaccharidoses (MPS) are estimated to affect1 in 25,000 live births although
specific rates vary between the ethnic origin and country. MPS are a group of lysosomal …
specific rates vary between the ethnic origin and country. MPS are a group of lysosomal …
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously …
R Giugliani, C Lampe, N Guffon… - American journal of …, 2014 - Wiley Online Library
Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder
with multiorgan manifestations caused by deficient N‐acetylgalactosamine‐4‐sulfatase …
with multiorgan manifestations caused by deficient N‐acetylgalactosamine‐4‐sulfatase …
Differences in MPS I and MPS II disease manifestations
Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage
diseases associated with disrupted glycosaminoglycan catabolism. In MPS II, the first step of …
diseases associated with disrupted glycosaminoglycan catabolism. In MPS II, the first step of …
The future of newborn screening for lysosomal disorders
The goal of newborn screening is to enhance the outcome of individuals with serious,
treatable disorders through early, pre-symptomatic detection. The lysosomal storage …
treatable disorders through early, pre-symptomatic detection. The lysosomal storage …