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α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.
Orphanet J Rare Dis
November 2024
Center for Research and Diagnosis of Genetic Diseases - Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
Background: α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner. The impairment of affected individuals is multisystemic and very similar to the observed in some mucopolysaccharidosis (MPS) patients. The aim of this study was to search for α-mannosidosis cases in individuals with clinical suspicion of MPS without a confirmed diagnosis.
View Article and Find Full Text PDFModeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells.
JCI Insight
March 2024
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Dysostosis multiplex is a major cause of morbidity in Hurler syndrome (mucopolysaccharidosis type IH [MPS IH], OMIM #607014) because currently available therapies have limited success in its prevention and reversion. Unfortunately, the elucidation of skeletal pathogenesis in MPS IH is limited by difficulties in obtaining bone specimens from pediatric patients and poor reproducibility in animal models. Thus, the application of experimental systems that can be used to dissect cellular and molecular mechanisms underlying the skeletal phenotype of MPS IH patients and to identify effective therapies is highly needed.
View Article and Find Full Text PDFExtensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.
Children (Basel)
December 2023
Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Article Synopsis
- In rare cases, extensive DM in young children can indicate the presence of mucopolysaccharidoses (MPS), specifically linked to conditions like Hurler syndrome and Hunter syndrome.
- A new case study involving a two-year-old boy suggests a potential connection between extensive congenital DM and MPS type IIIC, raising questions about mild phenotypic expressions in carriers of lysosomal storage disorders (LySD).
Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.
Cardiol Young
February 2024
Department of Medical Genetics and the British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Mucopolysaccharidosis type I is an inborn error of glycosaminoglycan catabolism with phenotypes ranging from severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes). Cardiovascular involvement is common and contributes significantly to morbidity and mortality. We conducted a retrospective analysis of the prevalence and natural history of cardiac abnormalities in treatment-naïve individuals enrolled in the international Mucopolysaccharidosis Type I Registry.
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