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

• अन्य लेखक: Stepien, Karolina M. (संपादक), Hendriksz, Christian J. (संपादक), Pastores, Gregory M (संपादक)
• स्वरूप: इलेक्ट्रोनिक पुस्तक अध्याय
• भाषा: अंग्रेज़ी
• प्रकाशित: Basel MDPI - Multidisciplinary Digital Publishing Institute 2023
• विषय: Medicine; Neurology & clinical neurophysiology; 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
• ऑनलाइन पहुंच: DOAB: download the publication; DOAB: description of the publication

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...