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Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities

This reprint, entitled "Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities", covers broad aspects of this group of rare diseases. The first theme includes articles on the management of pain, corneal...

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Bibliographic Details
Main Author: Stepien, Karolina M.
Other Authors: Hendriksz, Christian J., Pastores, Gregory M
Format: eBook
Language:English
Published: Basel MDPI - Multidisciplinary Digital Publishing Institute 2023
Subjects:
Corneal Clouding
Intratracheal
Speech
Mucopolysaccharidosis
Cognition
Acoustic
Perfusion
Niemann-pick Type B
Adult Metabolic Medicine
Mps
Airway
Voice
Management
Inherited Metabolic Disorders
Mucolipidosis
Respiratory
Transition Service
Morbidity
Acid Sphingomyelinase
Anaesthesia
Translational Research
Gastrointestinal
Mortality
Dysphonia
Perinatal-lethal Gaucher Disease
Neuropathic Pain
Late-onset Pompe Disease
Neurofilament Light
Atherosclerosis
Obstruction
Angina
Enzyme Replacement Therapy
Perioperative Complications
Gba Gene
Health Care Providers
Surgery
Fabry Disease
Disease Manifestations
Challenges
Gaa
I-cell Disease
Sanfilippo Syndrome
Collaboration
Mlii
Pompe Disease
Medicine And Nursing / Bicssc
Attention
Ichthyosis
Glycogen Storage Disorder
Depression
Symptoms
Deep Anterior Lamellar Keratoplasty
Plgd
Attention Deficit/hyperactivity
Lysosomal Storage Disease (lsd)
Smooth Muscles
Intubation
Nihf
Inherited Metabolic Diseases
Neurological Disease
Promis-gi Symptom Scales
Dried-blood Spots
Covid-19
Ml Ii
Niemann-pick Type A
Biomarkers
Trehalose
Healthcare Systems
Mucolipidosis Type Ii
Patient-reported Outcomes Measures
Gaako Mice
Hyperparathyroidism
Hyoid Bone
Chin
Neurology And Clinical Neurophysiology / Bicssc
Spine Disease
Sphingolipid Deposition
Gene Panel Sequencing
Glycogen Storage Disease Type Ii
Airway Management
Alpha-glucosidase
Ml
Mucopolysaccharidoses
Niemann-pick C
Gaucher Disease
Ischaemia
Grbas
Radiology
Fabry
Penetrating Keratoplasty
Auditory-perceptual
Rare Autoinflammatory Diseases
Online Access:
Collection: Directory of Open Access Books - Collection details see MPG.ReNa
Description
Summary:This reprint, entitled "Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities", covers broad aspects of this group of rare diseases. The first theme includes articles on the management of pain, corneal clouding, gastrointestinal and airway diseases in Mucopolysaccharidoses and Mucolipidoses, and the evaluation of dysphonia in Pompe disease. Additionally, attention deficit and ADHD and the management of atherosclerosis in Fabry disease are considered here. The second theme includes diagnostic conundrums in lysosomal storage diseases, e.g., the prenatal diagnosis of Gaucher disease during pregnancy, the diagnosis of secondary hyperparathyroidism in Mucolipidoses, and the application of the new biomarker "plasma neurofilament light" in Niemann Pick C disease, as well as the correlation of enzyme activity with molecular diagnosis in Pompe disease. The articles in the third theme describe the impact of therapies on clinical outcomes. For example, a systematic review of the impact of enzyme replacement therapy on late-onset Pompe disease and trehalose use on Niemann Pick A and B is included. The remaining articles describe the NHS processes for overcoming challenges resulting from the COVID-19 pandemic and the differences in the transition from paediatric to adult services between different countries.
Item Description:Creative Commons (cc), https://creativecommons.org/licenses/by/4.0/
Physical Description:1 electronic resource (266 p.)
ISBN:9783036597492
9783036597485
books978-3-0365-9749-2

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