Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder by Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra

“…Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. …”
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Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial by Aneal Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin

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Advancing CNS Therapeutics: Enhancing Neurological Disorders with Nanoparticle-Based Gene and Enzyme Replacement Therapies by Liu S, Li H, Xi S, Zhang Y, Sun T

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Corrigendum: Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease by Barry J. Byrne, Giancarlo Parenti, Giancarlo Parenti, Benedikt Schoser, Ans T. van der Ploeg, Hung Do, Brian Fox, Mitchell Goldman, Franklin K. Johnson, Jia Kang, Nickita Mehta, John Mondick, M. Osman Sheikh, Sheela Sitaraman Das, Steven Tuske, Jon Brudvig, Jill M. Weimer, Tahseen Mozaffar

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Ablation of lipocalin-2 reduces neuroinflammation in a mouse model of Krabbe disease by Jacob Favret, Malabika Maulik, Rayan Masoom, Meghana Kushwaha, Devin Thompson, Richard Browne, Daesung Shin

Subjects: “…Lysosomal storage disorder…”
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Mucopolysaccharidosis: A rare case from ophthalmology perspective by Santosh Singh Patel, Rajesh Kumar Sahu, Reshu Malhotra, Anju Bhaskar, A. K. Chandrakar

“…MPSs are a group of lysosomal storage disorders caused by inborn errors of glycosaminoglycan metabolism. …”
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Glycosaminoglycan Storage Disorders: A Review by Maria Francisca Coutinho, Lúcia Lacerda, Sandra Alves

“…Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs). …”
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Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population by Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa

“…Abstract Acid sphingomyelinase deficiency (ASMD) and Gaucher disease (GD) are lysosomal storage disorders associated with hepatosplenomegaly and thrombocytopenia. …”
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The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses by Sabrina Congedi, Chiara Di Pede, Maurizio Scarpa, Angelica Rampazzo, Franca Benini

“…Mucopolysaccharidoses (MPSs) are a group of rare, genetic lysosomal storage disorders. They are caused by deficiencies of the lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). …”
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Deficiency in NPC2 results in disruption of mitochondria-late endosome/lysosomes contact sites and endo-lysosomal lipid dyshomeostasis by Raffaele Pastore, Lihang Yao, Nathan Hatcher, Martin Helley, Janet Brownlees, Radha Desai

“…Abstract Dysfunction of the endo-lysosomal intracellular Cholesterol transporter 2 protein (NPC2) leads to the onset of Niemann–Pick Disease Type C (NPC), a lysosomal storage disorder. Metabolic and homeostatic mechanisms are disrupted in lysosomal storage disorders (LSDs) hence we characterized a cellular model of NPC2 knock out, to assess alterations in organellar function and inter-organellar crosstalk between mitochondria and lysosomes. …”
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Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis by Sasha Libbrecht, Francois Eyskens, Sabine Declercq, Cecile Colpaert

“…Introduction. Lysosomal storage disorders (LSDs) are rare diseases with more than 50 different entities described today. …”
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Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases by Giovanni Lerussi, Verónica Villagrasa-Araya, Marc Moltó-Abad, Mireia del Toro, Guillem Pintos-Morell, Joaquin Seras-Franzoso, Ibane Abasolo

“…Extracellular vesicles (EVs) are nanosized, membrane-bound structures that have emerged as promising tools for drug delivery, especially in the treatment of lysosomal storage disorders (LSDs) with central nervous system (CNS) involvement. …”
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Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder by Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

“…While glycosphingolipid (GSL) metabolism is altered in other lysosomal storage disorders, its role in FSASD remains poorly understood, especially due to the restricted availability of biospecimens. …”
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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum by Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins

“…Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. …”
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Acroparesthesia in a Female: Diagnostic Dilemma by Fnu Kelash, Lara Kujtan, Padmaja V. Mallidi

“…Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids. …”
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A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period by Su Nam Lee, Gee-Hee Kim, Ki-Dong Yoo

“…Fabry disease (FD) is a progressive, X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A activity. …”
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The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease by Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra

“…Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. …”
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Early Renal Involvement in a Girl with Classic Fabry Disease by Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche

“…Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. …”
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Fabry Disease and Early Stroke by U. Feldt-Rasmussen

“…Fabry disease, an X-linked lysosomal storage disorder, results from deficient activity of the enzyme α-galactosidase A. …”
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Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies by Chiara Tognola, Giacomo Ruzzenenti, Alessandro Maloberti, Marisa Varrenti, Patrizio Mazzone, Cristina Giannattasio, Fabrizio Guarracini

“…Anderson–Fabry disease (AFD) is a rare X-linked lysosomal storage disorder characterized by the accumulation of globotriaosylceramide, leading to multi-organ involvement and significant morbidity. …”
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