Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...].
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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFNASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease".
Int J Cardiovasc Imaging
January 2025
Michigan Medicine, University Hospital, Floor B1 Reception C 1500 E Medical Center Dr SPC 5030, Ann Arbor, MI, 48109, USA.
Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder that can result in cardiac dysfunction including left ventricular hypertrophy (LVH) and conduction abnormalities (Frontiers in cardiovascular medicine vol. 10) [1]. The manifestations of AFD in women may be isolated to one organ and occur late in life due to the random inactivation of the X chromosome.
View Article and Find Full Text PDFVacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS).
Eur J Neurol
January 2025
Groupe Hospitalier Pitié-Salpêtrière, Institut de Myologie, AP-HP, Sorbonne Université, Paris, France.
Background: Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG-associated myopathies remains poorly described.
Objective: To report a newly acquired myopathy associated with MG.
Methods: Three adult patients with the same phenotype from two French referral centers were prospectively analyzed.
GM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused by variants in encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable.
View Article and Find Full Text PDFAutomated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM).
Open Heart
January 2025
Department of Internal Medicine I, Universitätsklinikum Würzburg, Würzburg, BY, Germany
Background And Aims: Hypertrophic cardiomyopathy (HCM) has various aetiologies, including genetic conditions like Fabry disease (FD), a lysosomal storage disorder. FD prevalence in high-risk HCM populations ranges from 0.3% to 11.
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