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Lysosomal storage diseases

This section aims to allow timely communication on diseases associated with lysosomal dysfunction, including topics on lysosome biogenesis, pathophysiology and putative therapeutic options. Although previously viewed as a terminal compartment for the degradation of macromolecular by-products of cellular turnover, a central role for the lysosome is increasingly acknowledged, including recently identified tasks in nutrient sensing; occurring in a coordinated fashion with autophagic pathways. Insights into pathophysiology are revealing potential shared mechanisms of disease with other more common neurodegenerative conditions seen in an aging population, such as Parkinson's and Alzheimer's disease. Studies in animal models have been invaluable in identifying potential therapeutic options that hopefully will advance the care of affected patients. The blood brain barrier remains a challenge which needs to be addressed, to enable transformative therapies which can gain access to vulnerable neuronal populations for disease subtypes associated with primary CNS involvement. Submissions that relate to the clinical manifestations, underlying biochemical, and molecular changes associated with defined clinical entities, animal model studies, therapeutic outcomes, and novel treatment strategies, will be considered. In addition, studies on societal impact of treatments including cost-effectiveness analyses will be considered.

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  1. Content type: Research

    Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder that can present as a severe, infantile form also known as Wolman disease. We sought to determine the outcomes and clinical needs of ...

    Authors: Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro and Can Ficicioglu

    Citation: Orphanet Journal of Rare Diseases 2019 14:198

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  2. Content type: Letter to the Editor

    Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations,...

    Authors: Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper and Pablo Garcia-Pavia

    Citation: Orphanet Journal of Rare Diseases 2019 14:170

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  3. Content type: Research

    Sanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic sy...

    Authors: Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill and Suresh Vijayaraghavan

    Citation: Orphanet Journal of Rare Diseases 2019 14:168

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  4. Content type: Research

    Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, kerata...

    Authors: Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob and Lock Hock Ngu

    Citation: Orphanet Journal of Rare Diseases 2019 14:143

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  5. Content type: Research

    Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulfate. Cardiac abnormalities have been ...

    Authors: Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2019 14:140

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  6. Content type: Research

    Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosom...

    Authors: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen…

    Citation: Orphanet Journal of Rare Diseases 2019 14:137

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  7. Content type: Research

    Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype...

    Authors: Saskia Elgün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck-Wödl, Jennifer Just, Ludger Schöls, Nicole Wolf, Ingeborg Krägeloh-Mann and Samuel Groeschel

    Citation: Orphanet Journal of Rare Diseases 2019 14:136

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  8. Content type: Research

    Eliglustat is a first-line oral treatment for adults with Gaucher disease type 1 who have an extensive, intermediate or poor CYP2D6 metabolizer phenotype (> 90% of patients). Whereas enzyme replacement therapy...

    Authors: M. Judith Peterschmitt, Selena Freisens, Lisa H. Underhill, Meredith C. Foster, Grace Lewis and Sebastiaan J. M. Gaemers

    Citation: Orphanet Journal of Rare Diseases 2019 14:128

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  9. Content type: Research

    Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogenei...

    Authors: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen…

    Citation: Orphanet Journal of Rare Diseases 2019 14:118

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  10. Content type: Research

    Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson’s disease (PD) is the second most common neurodegenerative condition. The cl...

    Authors: Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher and Ida V. D. Schwartz

    Citation: Orphanet Journal of Rare Diseases 2019 14:103

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  11. Content type: Research

    Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four enzymes involved in the degradation of heparan sulfate. ...

    Authors: Nicole M. Muschol, Daniel Pape, Kai Kossow, Kurt Ullrich, Laila Arash-Kaps, Julia B. Hennermann, Ralf Stücker and Sandra R. Breyer

    Citation: Orphanet Journal of Rare Diseases 2019 14:93

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  12. Content type: Research

    Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A. Neurological involvement results in severe disability and premature ...

    Authors: Magdalena Harrington, Diane Whalley, James Twiss, Rebecca Rushton, Susan Martin, Lynn Huynh and Hongbo Yang

    Citation: Orphanet Journal of Rare Diseases 2019 14:89

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  13. Content type: Research

    Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This is the first report of Chinese patients from the global Pompe Regis...

    Authors: Yuying Zhao, Zhaoxia Wang, Jiahong Lu, Xuefan Gu, Yonglan Huang, Zhengqing Qiu, Yanping Wei and Chuanzhu Yan

    Citation: Orphanet Journal of Rare Diseases 2019 14:78

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  14. Content type: Letter to the Editor

    Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangemen...

    Authors: Marco Confalonieri, Michele Vitacca, Raffaele Scala, Mario Polverino, Eugenio Sabato, Grazia Crescimanno, Piero Ceriana, Caterina Antonaglia, Gabriele Siciliano, Nadja Ring, Serena Zacchigna, Francesco Salton and Andrea Vianello

    Citation: Orphanet Journal of Rare Diseases 2019 14:62

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  15. Content type: Research

    Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (int...

    Authors: Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska and Anna Tylki-Szymańska

    Citation: Orphanet Journal of Rare Diseases 2019 14:55

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  16. Content type: Research

    Severe mucopolysaccharidosis type I (also known as Hurler syndrome) is a rare devasting recessive genetic disease caused by the deficiency of an enzyme. Hematopoietic stem cell transplant is the standard of ca...

    Authors: Therese Conner, Francesca Cook, Vivian Fernandez, Karen Rascati and Vanessa Rangel-Miller

    Citation: Orphanet Journal of Rare Diseases 2019 14:48

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  17. Content type: Research

    Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without ...

    Authors: Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols and Maria L. Escolar

    Citation: Orphanet Journal of Rare Diseases 2019 14:46

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  18. Content type: Research

    In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily l...

    Authors: Gé-Ann Kuiper, Eveline J. Langereis, Sandra Breyer, Marco Carbone, René M. Castelein, Deborah M. Eastwood, Christophe Garin, Nathalie Guffon, Peter M. van Hasselt, Pauline Hensman, Simon A. Jones, Vladimir Kenis, Moyo Kruyt, Johanna H. van der Lee, William G. Mackenzie, Paul J. Orchard…

    Citation: Orphanet Journal of Rare Diseases 2019 14:17

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  19. Content type: Letter to the Editor

    Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement...

    Authors: Wladimir Mauhin, Olivier Lidove and Olivier Benveniste

    Citation: Orphanet Journal of Rare Diseases 2019 14:4

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  20. Content type: Research

    Carpal tunnel syndrome (CTS) is a common complication of the mucopolysaccharidoses. In severe or attenuated mucopolysaccharidoses patients, clinical symptoms of CTS usually appear at a late stage of median ner...

    Authors: Kim Maincent, Bénédicte Héron, Thierry Billette de Villemeur and Michèle Mayer

    Citation: Orphanet Journal of Rare Diseases 2018 13:209

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  21. Content type: Research

    Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the...

    Authors: Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois…

    Citation: Orphanet Journal of Rare Diseases 2018 13:175

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  22. Content type: Research

    Lumacaftor/ivacaftor was approved by the Food and Drug Administration (FDA) as a combination treatment for Cystic Fibrosis (CF) patients who are homozygous for the F508del mutation. The objective of this study...

    Authors: Dolly Sharma, Shan Xing, Yu-Ting Hung, Rachel N. Caskey, Maria L. Dowell and Daniel R. Touchette

    Citation: Orphanet Journal of Rare Diseases 2018 13:172

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  23. Content type: Research

    Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of ...

    Authors: Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory…

    Citation: Orphanet Journal of Rare Diseases 2018 13:152

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  24. Content type: Research

    This study aimed to obtain UK societal-based utility values for health states related to treatment mode of administration using Gaucher disease as the background condition.

    Authors: Monica Hadi, Paul Swinburn, Luba Nalysnyk, Alaa Hamed and Atul Mehta

    Citation: Orphanet Journal of Rare Diseases 2018 13:159

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  25. Content type: Research

    Cardiac abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular heart disease and cardiac hypertrophy. However, few stud...

    Authors: Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Chih-Kuang Chuang and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2018 13:148

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  26. Content type: Review

    Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. Miglustat is indicated for the treatment ...

    Authors: Mercè Pineda, Mark Walterfang and Marc C. Patterson

    Citation: Orphanet Journal of Rare Diseases 2018 13:140

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  27. Content type: Research

    Fabry Disease (FD) is an X-linked hereditary lysosomal storage disorder which leads to a multisystemic intralysosomal accumulation of globotriaosylceramid (Gb3). Besides prominent renal and cardiac organ invol...

    Authors: Maria Köping, Wafaa Shehata-Dieler, Dieter Schneider, Mario Cebulla, Daniel Oder, Jonas Müntze, Peter Nordbeck, Christoph Wanner, Rudolf Hagen and Sebastian P. Schraven

    Citation: Orphanet Journal of Rare Diseases 2018 13:137

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  28. Content type: Research

    Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in the lysosomal enzyme galactocerebrosidase. Patients with Krabbe disease present with a variable disease course depending on their a...

    Authors: Nicholas Bascou, Anthony DeRenzo, Michele D. Poe and Maria L. Escolar

    Citation: Orphanet Journal of Rare Diseases 2018 13:126

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  29. Content type: Research

    Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement...

    Authors: Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot…

    Citation: Orphanet Journal of Rare Diseases 2018 13:127

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  30. Content type: Review

    Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progr...

    Authors: Fabian P. S. Yu, Samuel Amintas, Thierry Levade and Jeffrey A. Medin

    Citation: Orphanet Journal of Rare Diseases 2018 13:121

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  31. Content type: Research

    Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L-iduronidase (IDUA), and a majority of patients present with severe neurodegeneration and cognitiv...

    Authors: Roberto Giugliani, Luciana Giugliani, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Amauri Dalla Corte, Mathias Schmidt, Ruben J. Boado, Igor Nestrasil, Carol Nguyen, Steven Chen and William M. Pardridge

    Citation: Orphanet Journal of Rare Diseases 2018 13:110

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  32. Content type: Research

    Niemann-Pick disease type C (NP-C) is a rare, progressive neurodegenerative disease caused by mutations in the NPC1 or the NPC2 gene. Neurocognitive deficits are common in NP-C, particularly in patients with the ...

    Authors: Andreas Johnen, Matthias Pawlowski and Thomas Duning

    Citation: Orphanet Journal of Rare Diseases 2018 13:91

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  33. Content type: Research

    Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical hi...

    Authors: Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2018 13:89

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  34. Content type: Research

    α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial coarsening,...

    Authors: Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B. Hennermann and Susanne Pitz

    Citation: Orphanet Journal of Rare Diseases 2018 13:88

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  35. Content type: Research

    Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs). The accumulation of GAGs in ...

    Authors: Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2018 13:84

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  36. Content type: Research

    Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and respirator dependency. Clinical studies have shown enzym...

    Authors: Jan C. van der Meijden, Michelle E. Kruijshaar, Dimitris Rizopoulos, Pieter A. van Doorn, Nadine A. M. E. van der Beek and Ans T. van der Ploeg

    Citation: Orphanet Journal of Rare Diseases 2018 13:82

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  37. Content type: Research

    Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standa...

    Authors: Elsa G. Shapiro, Chester B. Whitley and Julie B. Eisengart

    Citation: Orphanet Journal of Rare Diseases 2018 13:76

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  38. Content type: Research

    Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with ...

    Authors: Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth and Kathleen Nicholls

    Citation: Orphanet Journal of Rare Diseases 2018 13:68

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  39. Content type: Research

    Lysosomal α-glucosidase deficiency (Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. Dolichoectasia of the basilar artery (BA) has been frequently r...

    Authors: Ole Hensel, Ilka Schneider, Mathias Wieprecht, Torsten Kraya and Stephan Zierz

    Citation: Orphanet Journal of Rare Diseases 2018 13:57

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  40. Content type: Research

    Infantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system (CNS). The infantile NCL (INCL) is caused by mutations in the PPT1 gene and l...

    Authors: Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette Beers, Jizhong Zou, Steven Titus, Elizabeth A. Ottinger, Juan J. Marugan, Xing Xie and Wei Zheng

    Citation: Orphanet Journal of Rare Diseases 2018 13:54

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  41. Content type: Research

    Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the managemen...

    Authors: Irene Vieitez, Olga Souto-Rodriguez, Lorena Fernandez-Mosquera, Beatriz San Millan, Susana Teijeira, Julian Fernandez-Martin, Felisa Martinez-Sanchez, Luis Jose Aldamiz-Echevarria, Monica Lopez-Rodriguez, Carmen Navarro and Saida Ortolano

    Citation: Orphanet Journal of Rare Diseases 2018 13:52

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  42. Content type: Review

    Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysos...

    Authors: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell…

    Citation: Orphanet Journal of Rare Diseases 2018 13:50

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  43. Content type: Research

    The study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) childr...

    Authors: Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li and Hongfang Ding

    Citation: Orphanet Journal of Rare Diseases 2018 13:48

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  44. Content type: Review

    Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell–expressed recomb...

    Authors: Ari Zimran, Michael Wajnrajch, Betina Hernandez and Gregory M. Pastores

    Citation: Orphanet Journal of Rare Diseases 2018 13:36

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  45. Content type: Research

    Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a c...

    Authors: Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada…

    Citation: Orphanet Journal of Rare Diseases 2018 13:32

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  46. Content type: Review

    Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human ...

    Authors: Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins and Joseph J. Orsini

    Citation: Orphanet Journal of Rare Diseases 2018 13:30

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  47. Content type: Research

    Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with seb...

    Authors: Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino and Stefano Bertolini

    Citation: Orphanet Journal of Rare Diseases 2018 13:24

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  48. Content type: Research

    Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal...

    Authors: Tim A. Kanters, Ans T. van der Ploeg, Michelle E. Kruijshaar, Dimitris Rizopoulos, W. Ken Redekop, Maureen P. M. H. Rutten-van Mӧlken and Leona Hakkaart-van Roijen

    Citation: Orphanet Journal of Rare Diseases 2017 12:179

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