Intravenous enzyme replacement therapy in mucopolysaccharidoses: clinical effectiveness and limitations

R Parini, F Deodato - International Journal of Molecular Sciences, 2020 - mdpi.com
The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of
intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses …

Respiratory and sleep disorders in mucopolysaccharidosis

KI Berger, SC Fagondes, R Giugliani, KA Hardy… - Journal of inherited …, 2013 - Springer
MPS encompasses a group of rare lysosomal storage disorders that are associated with the
accumulation of glycosaminoglycans (GAG) in organs and tissues. This accumulation can …

Anaesthesia and airway management in mucopolysaccharidosis

R Walker, KG Belani, EA Braunlin, IA Bruce… - Journal of inherited …, 2013 - Springer
This paper provides a detailed overview and discussion of anaesthesia in patients with
mucopolysaccharidosis (MPS), the evaluation of risk factors in these patients and their …

Imaging findings of mucopolysaccharidoses: a pictorial review

S Palmucci, G Attinà, ML Lanza, G Belfiore… - Insights into …, 2013 - Springer
Introduction Mucopolysaccharidosis (MPS) represent a heterogeneous group of inheritable
lysosomal storage diseases in which the accumulation of undegraded glycosaminoglycans …

Anesthesiological risks in mucopolysaccharidoses

A Moretto, MG Bosatra, L Marchesini… - Italian journal of pediatrics, 2018 - Springer
Background Patients suffering from mucopolysaccharidosis are among the most complex
from the anesthesiological point of view, especially regarding the management of the …

Molecular pathways and respiratory involvement in lysosomal storage diseases

P Faverio, A Stainer, F De Giacomi, S Gasperini… - International journal of …, 2019 - mdpi.com
Lysosomal storage diseases (LSD) include a wide range of different disorders with variable
degrees of respiratory system involvement. The purpose of this narrative review is to treat …

Bronchoscopy and airway management in patients with mucopolysaccharidoses (MPS)

MS Muhlebach, CB Shaffer, L Georges… - Pediatric …, 2013 - Wiley Online Library
Introduction Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders
characterized by tissue deposition of glycosaminoglycans (GAG). Their musculoskeletal …

CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses

N Morimoto, M Kitamura, M Kosuga… - Molecular genetics and …, 2014 - Elsevier
Abstract Background Mucopolysaccharidoses (MPSs) are lysosomal storage disorders
caused by lysosomal enzyme deficiencies that result in systemic accumulation of …

ENT and mucopolysaccharidoses

PM Bianchi, R Gaini, S Vitale - Italian Journal of Pediatrics, 2018 - Springer
The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic
disorders, each associated with a deficiency in one of the enzymes involved in …

Anaesthetic implications of the changing management of patients with mucopolysaccharidosis

HA Hack, RWM Walker… - … and Intensive Care, 2016 - journals.sagepub.com
The mucopolysaccharidoses are a group of inherited metabolic disorders that are renowned
for presenting clinical problems, particularly related to cardiac, airway, and skeletal …