Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.pedneo.2016.12.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease.
Brain Sci
October 2024
Department of Otolaryngology, Polish Mother's Memorial Hospital Research Institute, 93-338 Lodz, Poland.
Background: The mucopolysaccharidoses (MPSs) are very rare lysosomal diseases. MPSs belong to inherited diseases; however, newborns are usually asymptomatic. A deficiency of one of the enzymes, which is responsible for glycosaminoglycan (GAG) catabolism, results in the accumulation of this material.
View Article and Find Full Text PDFRespiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma in an adult patient with mucopolysaccharidosis type II: a case report.
Int Cancer Conf J
October 2024
Department of Orthopedic Surgery, Osaka Metropolitan University Graduate School of Medicine, 1-4-3 Asahi-Machi, Abeno-Ku, Osaka, 545-8585 Japan.
Mucopolysaccharidosis is a rare lysosomal storage disease caused by deficiencies in enzymes involved in the degradation of glycosaminoglycans. We report the case of an adult with mucopolysaccharidosis type II who developed respiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma. This report describes the case of a 35-year-old man with a mass on the left chest wall for 3 months.
View Article and Find Full Text PDFThe diagnosis and management of mucopolysaccharidosis type II.
Ital J Pediatr
October 2024
Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Article Synopsis
- Mucopolysaccharidosis type II (MPS II) is a rare genetic disorder caused by mutations in the IDS gene, leading to reduced enzyme activity and the accumulation of harmful substances in cells, affecting multiple body systems.
- Symptoms of MPS II include distinctive facial features, skeletal abnormalities, respiratory issues, and hernias, and diagnosis involves clinical evaluation, imaging, lab tests, and genetic analysis.
- Treatment mainly focuses on managing symptoms, as options like enzyme replacement therapy and stem cell transplantation are limited by costs and availability, resulting in high misdiagnosis rates in places like China.
[Importance of lysosomal storage diseases in rheumatology].
Z Rheumatol
June 2024
Internationales Centrum für lysosomale Speicherkrankheiten, Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, 20251, Hamburg, Deutschland.
Lysosomal storage diseases are a group of rare hereditary metabolic diseases. Due to a deficiency of lysosomal enzymes, complex substrates accumulate in the lysosomes of various organs. Depending on the affected enzyme, this results in clinically variable and chronic progressive multiorgan diseases.
View Article and Find Full Text PDFImproved specificity and efficacy of base-editing therapies with hybrid guide RNAs.
bioRxiv
June 2024
Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Phenylketonuria (PKU), hereditary tyrosinemia type 1 (HT1), and mucopolysaccharidosis type 1 (MPSI) are autosomal recessive disorders linked to the phenylalanine hydroxylase () gene, fumarylacetoacetate hydrolase () gene, and alpha-L-iduronidase () gene, respectively. Potential therapeutic strategies to ameliorate disease include corrective editing of pathogenic variants in the and genes and, as a variant-agnostic approach, inactivation of the 4-hydroxyphenylpyruvate dioxygenase () gene, a modifier of HT1, via adenine base editing. Here we evaluated the off-target editing profiles of therapeutic lead guide RNAs (gRNAs) that, when combined with adenine base editors correct the recurrent P281L variant, R408W variant, or W402X variant or disrupt the gene in human hepatocytes.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!