Renal Transplantation in Patients with Cystinosis – A Case Series by Yashwanth Raj Thiagarajan, Dinesh Kannabhiran, Kanakaraj Arumugham, Rajan Ravichandran

“…Cystinosis is a rare autosomal recessive lysosomal storage disorder causing intracellular accumulation of cystine in different organs, leading to several organ dysfunctions. …”
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Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease by Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia

“…Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside. …”
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Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B by Atakan Tanacan, Abdullah Yalcin, Canan Unal, Seda Banu Akinci, Mehmet Sinan Beksac

“…Niemann-Pick Disease Type B (NPD B) is a rare lysosomal storage disorder resulting from an inherited deficiency of acid sphingomyelinase activity. …”
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A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report by Martina Gaggl, Renate Kain, Peter Jaksch, Dominik Haider, Gerald Mundigler, Till Voigtländer, Raute Sunder-Plassmann, Paulus Rommer, Walter Klepetko, Gere Sunder-Plassmann

“…Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an α-galactosidase A deficiency resulting in globotriaosylceramide storage within cells. …”
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Major Organic Involvement in Women with Fabry Disease in Argentina by Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche

“…Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. …”
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Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience by Irina Tukan, Irith Hadas-Halpern, Gheona Altarescu, Ayala Abrahamov, Deborah Elstein, Ari Zimran

“…Gaucher disease, a lysosomal storage disorder, is a multisystem disorder with variable and unpredictable onset and severity. …”
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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report by Maxime Agranier, Florence Demurger, Christele Dubourg, Jerome Fromageot, Anne-Sophie Cabaret Dufour, Erika Launay, Magalie Gournay, Charles Lefèvre, Roseline Froissart, Magali Pettazzoni, Paul Rollier

“…Abstract Background Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. …”
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Obstacles to Early Diagnosis of Gaucher Disease by Nishimura S, Ma C, Sidransky E, Ryan E

“…Samantha Nishimura,* Charis Ma,* Ellen Sidransky, Emory Ryan National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA*These authors contributed equally to this workCorrespondence: Ellen Sidransky, National Human Genome Research Institute, National Institutes of Health, Building 35A -1E623 Convent Drive, MSC 3708, Bethesda, MD, 20892-3708, USA, Tel +1-301-451-0901, Fax +301-402-6438, Email sidranse@nih.govAbstract: Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the GBA1 gene. …”
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Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency by Federica Deodato, Sara Boenzi, Benedetta Greco, Alessia Graziosi, Carlo Dionisi-Vici

“…Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase, leading to sphingomyelin accumulation and multi-organ damage. …”
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Unravelling a mechanistic link between mitophagy defect, mitochondrial malfunction, and apoptotic neurodegeneration in Mucopolysaccharidosis VII by Nishan Mandal, Apurba Das, Rupak Datta

“…Cognitive disability and neurodegeneration are prominent symptoms of Mucopolysaccharidosis VII (MPS VII), a lysosomal storage disorder caused by β-glucuronidase enzyme deficiency. …”
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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 (Po... by Dawn A. Laney, Kayla A. Banks, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley

“…Abstract Background Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. …”
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Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency by Maximiliano Presa, Rachel M. Bailey, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J. Gray, Cathleen Lutz

“…Abstract Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. …”
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Clinical management of female patients with Fabry disease based on expert consensus by Eva Brand, Aleš Linhart, Patrick Deegan, Ruxandra Jurcut, Antonio Pisani, Roser Torra, Ulla Feldt-Rasmussen

“…Abstract Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. …”
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Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices by Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He

“…IntroductionMucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in ARSB gene. …”
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Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease by Nick Platt, Dawn Shepherd, David A. Smith, Claire Smith, Kerri-Lee Wallom, Raashid Luqmani, Grant C. Churchill, Antony Galione, Frances M. Platt

“…Sandhoff disease (SD) is a progressive neurodegenerative lysosomal storage disorder characterized by GM2 ganglioside accumulation as a result of mutations in the <i>HEXB</i> gene, which encodes the β-subunit of the enzyme β-hexosaminidase. …”
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Functional Tests and Surveys Used to Assess Nervous System Dysfunction in Patients with Fabry Disease – A Review by Stanislaw Jesionek, Jakub Parys, Agnieszka Mikosińska, Martyna Kaźmierczak, Partycja Kałuziak, Marta Jajczak, Maciej Mossakowski, Aleksandra Witek, Mateusz Litwin, Justyna Jankowska

“… Introduction and Purpose: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to progressive multi-organ damage. …”
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Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

“…GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. …”
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Case Report of Gastrointestinal Bleeding in an Adult with Chronic Visceral Acid Sphingomyelinase Deficiency by David Cassiman, Louis Libbrecht, Wouter Meersseman, Alexander Wilmer

“…Due to the rarity of this lysosomal storage disorder, there can be a lack of awareness that adults with chronic ASMD disease are at significant risk of cirrhosis, portal hypertension, and variceal bleeding. …”
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Automated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM) by Christoph Wanner, Peter Nordbeck, Lora Lorenz, Nurcan Üçeyler, Claudia Sommer, Kolja Lau, Victoria Sokalski, Georg Fette

“…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 11.8%. …”
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Health-Related Quality-of-Life Utility Values in Adults With Late-Onset Pompe Disease: Analyses of EQ-5D Data From the PROPEL Clinical Trial by Alison Griffiths, Simon Shohet, Neil Johnson, Alasdair MacCulloch

“…**Background:** Pompe disease is a rare lysosomal storage disorder, leading to accumulation of glycogen characterized by muscle weakness, fatigue, pain, and, in the longer term, a requirement for ventilatory and ambulatory support, and early mortality if untreated. …”
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