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,...
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MDPI - Multidisciplinary Digital Publishing Institute
2024
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| Առցանց հասանելիություն: | ONIX_20240108_9783036597485_81 |
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| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-132422 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2024 |
| publishDateRange | 2024 |
| publishDateSort | 2024 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-1324222024-03-31T13:08:19Z Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities Stepien, Karolina M. Hendriksz, Christian J. Pastores, Gregory M 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 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. 2024-01-08T14:49:45Z 2024-01-08T14:49:45Z 2023 book ONIX_20240108_9783036597485_81 9783036597485 9783036597492 https://directory.doabooks.org/handle/20.500.12854/132422 eng application/octet-stream Attribution 4.0 International https://mdpi.com/books/pdfview/book/8458 https://mdpi.com/books/pdfview/book/8458 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-9749-2 10.3390/books978-3-0365-9749-2 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036597485 9783036597492 266 Basel open access |
| spellingShingle | 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 Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities |
| title | Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities |
| title_full | Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities |
| title_fullStr | Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities |
| title_full_unstemmed | Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities |
| title_short | Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities |
| title_sort | management of acute and chronic complications of lysosomal storage diseases in children and adults current practice and future opportunities |
| topic | 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 |
| topic_facet | 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 |
| url | ONIX_20240108_9783036597485_81 |