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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 clouding,...

Whakaahuatanga katoa

I tiakina i:
Hōputu: Online
Reo:Ingarihi
I whakaputaina: MDPI - Multidisciplinary Digital Publishing Institute 2024
Ngā marau:
Mucopolysaccharidosis
corneal clouding
penetrating keratoplasty
deep anterior lamellar keratoplasty
mucopolysaccharidoses
airway
obstruction
management
Fabry disease
attention
Attention Deficit/Hyperactivity
cognition
late-onset Pompe disease
gastrointestinal
smooth muscles
PROMIS–GI symptom scales
GAAKO mice
glycogen storage disorder
translational research
patient-reported outcomes measures
mucopolysaccharidosis
MPS
disease manifestations
symptoms
morbidity
spine disease
anaesthesia
perioperative complications
surgery
pompe disease
speech
voice
dysphonia
acoustic
auditory-perceptual
GRBAS
respiratory
Pompe disease
gene panel sequencing
alpha-glucosidase
GAA
dried-blood spots
fabry disease
neuropathic pain
depression
Fabry
atherosclerosis
ischaemia
perfusion
angina
Sanfilippo syndrome
mortality
Niemann–Pick C
neurofilament light
biomarkers
neurological disease
glycogen storage disease type II
enzyme replacement therapy
COVID-19
inherited metabolic disorders
rare autoinflammatory diseases
health care providers
Gaucher disease
NIHF
perinatal-lethal Gaucher disease
PLGD
ichthyosis
GBA gene
airway management
radiology
hyoid bone
chin
intubation
intratracheal
lysosomal storage disease (LSD)
Niemann–Pick type A
Niemann–Pick type B
acid sphingomyelinase
sphingolipid deposition
trehalose
mucolipidosis type II
ML II
I-cell disease
hyperparathyroidism
mucolipidosis
ML
MLII
transition service
adult metabolic medicine
collaboration
challenges
inherited metabolic diseases
healthcare systems
thema EDItEUR::M Medicine and Nursing
thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology
Urunga tuihono:ONIX_20240108_9783036597485_81
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ONIX_20240108_9783036597485_81

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