Volume 44 Supplement 2
Mucopolysaccharidoses: state of the art
Reviews
The publication costs for this supplement were made possible with unconditional financial support from BioMarin, Sanofi Genzyme, and Shire. The sponsors had no input into the content of articles, which were independently prepared by the authors and have undergone the journal’s standard peer-review process. RP has received reimbursements, fees and funding, from Sanofi Genzyme, Shire International, BioMarin, Ultragenyx, SOBI and Chiesi. FS is a Senior Editor of Italian Journal of Pediatrics, and declares no competing interests. MS has received honoraria for scientific expertise and seminars and research grants from Actelio, Biomarin, Chiesi, Sanofi Genzyme, SHIRE , Sangamo and Ultragenix. GA declares no competing interests. AB declares no competing interests. GP declares no competing interests.
Edited by Rossella Parini, Francesca Santamaria, Maurizio Scarpa, Andrea Biondi, Generoso Andria and Giancarlo Parenti
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Content type: Introduction
Mucopolysaccharidoses (MPS) are genetic, progressive, lysosomal storage disorders affecting virtually all organs and systems. The first MPS were clinically identified about 100 years ago. Nowadays, the enzyme ...
Authors: Rossella Parini and Andrea Biondi
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Content type: Review
Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochem...
Authors: Cinzia Galimberti, Annalisa Madeo, Maja Di Rocco and Agata Fiumara
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Content type: Review
The mucopolysaccharidoses (MPS) are clinically similar but also heterogeneous in terms of major or minor involvement of different organs/systems, burden of disease, and rate of progression. The attenuated form...
Authors: Miriam Rigoldi, Elena Verrecchia, Raffaele Manna and Maria Teresa Mascia
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Content type: Review
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outc...
Authors: Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo and Alberto Burlina
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Content type: Review
Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the lysosomal hydrolases involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). They are al...
Authors: Mirella Filocamo, Rosella Tomanin, Francesca Bertola and Amelia Morrone
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Content type: Review
Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway. The evidence base for anesthesia management...
Authors: Alessandra Moretto, Maria Grazia Bosatra, Laura Marchesini and Simonetta Tesoro
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Content type: Review
The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GA...
Authors: Pier Marco Bianchi, Renato Gaini and Silvano Vitale
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Content type: Review
This article discusses the role of imaging modalities including radiography, multi-detector computed tomography, magnetic resonance imaging, and ultrasound in diagnosing and monitoring skeletal abnormalities i...
Authors: Vincenzo Spina, Domenico Barbuti, Alberto Gaeta, Stefano Palmucci, Ernesto Soscia, Marco Grimaldi, Antonio Leone, Renzo Manara and Gabriele Polonara
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Content type: Review
Mucopolysaccharidoses (MPS) are a group of diseases characterized by abnormal accumulation of glycosaminoglycans (GAGs). Although there are differences among the various disease types, the osteoarticular syste...
Authors: Andrea Borgo, Andrea Cossio, Denise Gallone, Francesca Vittoria and Marco Carbone
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Content type: Review
Neurosurgical features of mucopolysaccharidosis (MPS) patients mainly involve the presence of cranio-vertebral junction (CVJ) abnormalities and the development of communicating hydrocephalus. CVJ pathology is ...
Authors: Carlo Giussani, Lelio Guida, Francesco Canonico and Erik P. Sganzerla
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Content type: Review
Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) in different parts of the eye. Ocular problems are very common in MPS ...
Authors: Alessandra Del Longo, Elena Piozzi and Fiammetta Schweizer
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Content type: Review
Mucopolysaccharidoses (MPS) are a group of hereditary disorders caused by lysosomal storage of glycosaminoglycans (GAGs) and characterized by a wide variability of phenotypes from severe fetal-neonatal forms t...
Authors: Lucia Boffi, Pierluigi Russo and Giuseppe Limongelli
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Content type: Review
Mucopolysaccharidoses (MPS) are a group of lysosomal multisystemic, chronic, and progressive diseases characterized by the storage of glycosaminoglycans (GAGs) that may affect the central nervous system. Neuro...
Authors: Rita Barone, Alessandra Pellico, Annarita Pittalà and Serena Gasperini
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Content type: Review
Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. The efficacy of ERT has been evaluated in clinical trials and in many post-marketing studies with a...
Authors: Daniela Concolino, Federica Deodato and Rossella Parini
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Content type: Review
The mucopolysaccharidoses (MPS) are a heterogeneous group of in-born metabolic conditions caused by genetic defects that result in the absence or severe deficiency of one of the lysosomal hydrolases responsibl...
Authors: Cinzia M. Bellettato and Maurizio Scarpa
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Content type: Review
Enzyme replacement therapy is currently considered the standard of care for the treatment of mucopolysaccharidoses (MPS) type I, II, VI, and IV. This approach has shown substantial efficacy mainly on somatic s...
Authors: Simona Fecarotta, Serena Gasperini and Giancarlo Parenti
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Content type: Review
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency in lysosomal enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs). The current therapeutic stra...
Authors: Alessandro Fraldi, Marta Serafini, Nicolina Cristina Sorrentino, Bernhard Gentner, Alessandro Aiuti and Maria Ester Bernardo
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Content type: Case Report
A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typ...
Authors: Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo, Barbara Tappino, Douglas Friday, Serena Gasperini, Silvana Mariani, Claudia Izzi, Maria Pia Bondioni, Cinzia Gellera, Anna Venerando, Nicoletta Villa, Maria del Carmen Rodriguez Perez, Fabio Pavan, Andrea Biondi…
