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Lysosomal storage diseases.
Handb Clin Neurol
September 2024
Division of Inherited Metabolic Diseases, University Hospital of Padova, Padova, Italy.
Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by dysfunction of the lysosomal system, with subsequent progressive accumulation of macromolecules, activation of inflammatory response, and cell death. Neurologic damage is almost always present, and it is usually degenerative. White matter (WM) involvement may be primary or secondary.
View Article and Find Full Text PDFA case of type II fucosidosis-diagnosed with neuroradiological and dysmorphological findings.
Curr J Neurol
October 2023
Department of Radiodiagnosis, Dr. D. Y. Patil Medical College and Research Centre, Pune, Maharashtra, India.
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
J Inherit Metab Dis
March 2023
Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan-side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin-layer chromatography (TLC) but more recently also mass spectrometry-based approaches have been published. To expand the possibilities to screen for these diseases, we developed an ultra-high-performance liquid chromatography (UHPLC) with a high-resolution accurate mass (HRAM) mass spectrometry (MS) screening platform, together with an open-source iterative bioinformatics pipeline.
View Article and Find Full Text PDFLysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship.
Egypt J Med Hum Genet
September 2022
Faculty of Medicine, Tanta University, Tanta, Egypt.
Background: We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.
Case Presentation: A female patient aged 18 years, diagnosed with type II fucosidosis, based on the cutaneous signs, characteristic facies, and systemic symptoms, and diagnosis was confirmed using genetic analysis.
Identification of a novel homozygous mutation in gene causing severe fucosidosis: A case report.
J Int Med Res
April 2021
Department of Medical Genetics, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with an autosomal recessive mode of inheritance. Here, we describe a 4-year-old Chinese boy with signs and symptoms of fucosidosis but his parents were phenotypically normal. Whole exome sequencing (WES) identified a novel homozygous single nucleotide deletion (c.
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