Skip to main content

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.

Page 1 of 5

  1. Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be class...

    Authors: Wen-Li Lu, Yin-Hsiu Chien, Fuu-Jen Tsai, Wuh-Liang Hwu, Yen-Yin Chou, Shao-Yin Chu, Meng-Ju Li, An-Ju Lee, Chao-Chuan Liao, Chung-Hsing Wang and Ni-Chung Lee
    Citation: Orphanet Journal of Rare Diseases 2023 18:293
  2. Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of complications. Yet, many endure years-long diagnostic odysseys. We ...

    Authors: Amanda Wilson, Alexandra Chiorean, Mario Aguiar, Davorka Sekulic, Patrick Pavlick, Neha Shah, Lisa Sniderman King, Marie Génin, Mélissa Rollot, Margot Blanchon, Simon Gosset, Martin Montmerle, Cliona Molony and Alexandra Dumitriu
    Citation: Orphanet Journal of Rare Diseases 2023 18:280
  3. Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its ...

    Authors: Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li and Allan Zijian Zhao
    Citation: Orphanet Journal of Rare Diseases 2023 18:275
  4. The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to determine ...

    Authors: Mónica López-Rodríguez, Miguel Angel Torralba-Cabeza, Iván Pérez de Pedro, Alberto Rivera, Roi Suarez Gil, Ana Gómez-Belda, Jose Luis Patier de la Peña, Alberto de los Santos Moreno, Albert Selva-O’Callaghan, Igor Gómez Gárate, Andrés González García, Roberto Hurtado, Pablo Tutor de Ureta, Miguel Ángel Barba-Romero, José C. Milisenda and Josep M. Grau-Junyent
    Citation: Orphanet Journal of Rare Diseases 2023 18:256
  5. Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (I...

    Authors: Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan and Lock-Hock Ngu
    Citation: Orphanet Journal of Rare Diseases 2023 18:231
  6. Agalsidase beta, an enzyme replacement therapy for Fabry disease, is dosed biweekly at 1 mg/kg body weight, with increasing infusion rates based on tolerability. The US label specifies ≥ 90-min infusions for a...

    Authors: Chae Sung Lee, Mina Tsurumi and Yoshikatsu Eto
    Citation: Orphanet Journal of Rare Diseases 2023 18:209
  7. Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifes...

    Authors: Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier and Bénédicte Héron
    Citation: Orphanet Journal of Rare Diseases 2023 18:204
  8. Fabry disease (FD) is a rare X-linked metabolic storage disorder due to the deficiency of lysosomal α-galactosidase A which causes the accumulation of glycosphingolipids throughout the body. Underweight and lo...

    Authors: Zhihong Lu, Guoping Huang, Ling Yu, Yan Wang, Langping Gao, Li Lin, Lidan Hu and Jianhua Mao
    Citation: Orphanet Journal of Rare Diseases 2023 18:199
  9. GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has r...

    Authors: Maja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, Francesco Venturelli, Agata Fiumara, Simona Fecarotta, Maria Alice Donati, Marco Spada, Daniela Concolino and Andrea Pession
    Citation: Orphanet Journal of Rare Diseases 2023 18:197
  10. Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder. GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because they have brain involvement that progresses over time. I...

    Authors: Tanya Collin-Histed, Madeline Stoodley, Kathleen Beusterien, Deborah Elstein, Dena H. Jaffe, Shoshana Revel-Vilk and Elin Haf Davies
    Citation: Orphanet Journal of Rare Diseases 2023 18:195
  11. While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease. Therefore, the purpose of this study ...

    Authors: Derya Bako, Sebile Kılavuz, Adem Yasin Köksoy, Zeynep Uzan Tatli and Engin Beydogan
    Citation: Orphanet Journal of Rare Diseases 2023 18:173
  12. The aim of this letter to the editor is to summarize the results from three clinical trial programs evaluating delayed-release cysteamine bitartrate (DR-CYS), which demonstrated the long-term clinical benefits...

    Authors: Craig B. Langman
    Citation: Orphanet Journal of Rare Diseases 2023 18:162
  13. Niemann–Pick disease type C (NPC) is a rare inherited lysosomal storage disease typified by accumulation of cholesterol and other lipids in late endosomes/lysosomes, thereby resulting in a spectrum of neurolog...

    Authors: Emma Golden, Raquel van Gool, Mariesa Cay, Benjamin Goodlett, Amanda Cao, Walla Al-Hertani and Jaymin Upadhyay
    Citation: Orphanet Journal of Rare Diseases 2023 18:120
  14. Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has been provided in the Netherlands since 2008 because it diminishes the burden of treatmen...

    Authors: Imke A. M. Ditters, Nadine A. M. E. van der Beek, Esther Brusse, Ans T. van der Ploeg, Johanna M. P. van den Hout and Hidde H. Huidekoper
    Citation: Orphanet Journal of Rare Diseases 2023 18:108
  15. Enzyme replacement therapy with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in child...

    Authors: Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim and Monica Kumar
    Citation: Orphanet Journal of Rare Diseases 2023 18:94
  16. Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There ar...

    Authors: Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü…
    Citation: Orphanet Journal of Rare Diseases 2023 18:85
  17. Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase acti...

    Authors: Gaetano Giuffrida, Uros Markovic, Annalisa Condorelli, Valeria Calafiore, Daniela Nicolosi, Marianna Calagna, Stephanie Grasso, Marco Tindaro Valentino Ragusa, Jennifer Gentile and Mariasanta Napolitano
    Citation: Orphanet Journal of Rare Diseases 2023 18:27
  18. Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that fem...

    Authors: Rosario Sánchez, Tomás Ripoll-Vera, Manuel López-Mendoza, Joaquín de Juan-Ribera, Juan Ramón Gimeno, Álvaro Hermida, María Aurora Ruz-Zafra, José Vicente Torregrosa, Antonia Mora, José Manuel García-Pinilla, Elena Fortuny, Ana Aguinaga-Barrilero and Roser Torra
    Citation: Orphanet Journal of Rare Diseases 2023 18:8
  19. Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebr...

    Authors: Tanya Collin-Histed, Aviva Rosenberg, Noortje Hopman and Jessica Pacey
    Citation: Orphanet Journal of Rare Diseases 2023 18:5
  20. Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by defective enzyme activity involved in the catalysis of glycosaminoglycans. Published data on adult patients with MPS re...

    Authors: Nathalie Guffon, Delphine Genevaz, Didier Lacombe, Eliane Le Peillet Feuillet, Pascale Bausson, Esther Noel, François Maillot, Nadia Belmatoug and Roland Jaussaud
    Citation: Orphanet Journal of Rare Diseases 2022 17:448
  21. Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of gluco...

    Authors: A. Dardis, H. Michelakakis, P. Rozenfeld, K. Fumic, J. Wagner, E. Pavan, M. Fuller, S. Revel-Vilk, D. Hughes, T. Cox and J. Aerts
    Citation: Orphanet Journal of Rare Diseases 2022 17:442
  22. Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). We report 2-year cum...

    Authors: George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon and Monica Kumar
    Citation: Orphanet Journal of Rare Diseases 2022 17:437

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:55

  23. Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare genetic disorder involving high-impact therapy. Thr...

    Authors: Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego and Jordi Díaz-Manera
    Citation: Orphanet Journal of Rare Diseases 2022 17:426
  24. CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and prem...

    Authors: Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer and Jill M. Weimer
    Citation: Orphanet Journal of Rare Diseases 2022 17:411
  25. Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyel...

    Authors: Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira…
    Citation: Orphanet Journal of Rare Diseases 2022 17:407
  26. Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). MLD causes progressive loss of motor function and sever...

    Authors: Georgina Morton, Sophie Thomas, Pat Roberts, Vivienne Clark, Jackie Imrie and Alexandra Morrison
    Citation: Orphanet Journal of Rare Diseases 2022 17:403
  27. Idursulfase and laronidase are drugs used to treat Hunter syndrome (mucopolysaccharidosis type 2) and Scheie syndrome (mucopolysaccharidosis type 1 S), respectively. These are rare lysosomal storage disorders,...

    Authors: Federico Spataro, Fabio Viggiani, Domenico Giorgio Macchia, Valentina Rollo, Albina Tummolo, Patrizia Suppressa, Carlo Sabba’, Maria Pia Rossi, Lucia Giliberti, Francesco Satriano, Eustachio Nettis, Danilo Di Bona, Maria Filomena Caiaffa, Rita Fischetto and Luigi Macchia
    Citation: Orphanet Journal of Rare Diseases 2022 17:402
  28. Gaucher disease (GD) is an autosomal recessive disease caused by GBA1 mutations resulting in glucosylceramide accumulation in macrophages. GD is characterized by hepatosplenomegaly, anemia, thrombocytopenia, bone...

    Authors: Hiroyuki Ida, Yuko Watanabe, Rieko Sagara, Yoichi Inoue and Jovelle Fernandez
    Citation: Orphanet Journal of Rare Diseases 2022 17:401
  29. To date, measurement of intracellular cystine is used for the therapeutic monitoring of patients affected by cystinosis in treatment with cysteamine. Since this method is time and sample consuming, development...

    Authors: Martina Franzin, Silvia Rossetto, Rachele Ruoso, Rossella Del Savio, Gabriele Stocco, Giuliana Decorti and Riccardo Addobbati
    Citation: Orphanet Journal of Rare Diseases 2022 17:400
  30. Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive ...

    Authors: Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton and Cara O’Neill
    Citation: Orphanet Journal of Rare Diseases 2022 17:391
  31. Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases, complete/almost-complete acid alpha-...

    Authors: Zuhair Al Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi and Amal Al Teneiji
    Citation: Orphanet Journal of Rare Diseases 2022 17:388
  32. Several new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression diff...

    Authors: Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak and Barbara Sjouke
    Citation: Orphanet Journal of Rare Diseases 2022 17:383
  33. Lysosomal storage disorders (LSD) are rare diseases, caused by inherited deficiencies of lysosomal enzymes/transporters, that affect 1 in 7000 to 1 in 8000 newborns. Individuals with LSDs face long diagnostic ...

    Authors: P. K. Mistry, P. Kishnani, C. Wanner, D. Dong, J. Bender, J. L. Batista and J. Foster
    Citation: Orphanet Journal of Rare Diseases 2022 17:362
  34. Niemann–Pick disease type C1 (NPC1) is a rare autosomal recessive disease characterized by endolysosomal accumulation of unesterified cholesterol with progressive deterioration in swallowing, often leading to ...

    Authors: Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi, An Dang Do, Michael C. Backman, Leonza Machielse and Forbes D. Porter
    Citation: Orphanet Journal of Rare Diseases 2022 17:342
  35. Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficient activity of enzymes responsible for the catabolism of glycosaminoglycans (GAGs), resulting in progressive damage to va...

    Authors: Agnieszka Różdżyńska-Świątkowska, Anna Zielińska and Anna Tylki-Szymańska
    Citation: Orphanet Journal of Rare Diseases 2022 17:339
  36. Fabry disease (FD) is a rare metabolic disorder, in which a lifelong enzyme replacement therapy (ERT) constitutes the cornerstone of disease-specific therapy. In this study, we examined the effects of the COVI...

    Authors: Cebrail Karaca, Mevlut Tamer Dincer, Seyda Gul Ozcan, Betul Sarac, Saffa Ahmadzada, Selma Alagoz, Alev Bakir, Ertugrul Kiykim, Sinan Trabulus and Nurhan Seyahi
    Citation: Orphanet Journal of Rare Diseases 2022 17:338
  37. Major challenges to health care access include low health insurance literacy, prohibitive costs, and insurance barriers. Niemann–Pick disease (NPD), comprising acid sphingomyelinase deficiency (ASMD) and Niema...

    Authors: George A. Diaz, Joslyn Crowe and Justin Hopkin
    Citation: Orphanet Journal of Rare Diseases 2022 17:332
  38. In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arr...

    Authors: Ya-Ting Jan, Pei-Shan Tsai, Wen-Hui Huang, Shih-Chieh Huang, Yu-Peng Liu, She-Meng Cheng and Kun-Shuo Huang
    Citation: Orphanet Journal of Rare Diseases 2022 17:296
  39. Fabry disease (FD) is a rare X-linked, lysosomal storage disorder caused by mutations in the alpha-galactosidase gene and characterized by neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and...

    Authors: Marco Marenco, Marco Segatto, Marta Sacchetti, Pietro Mangiantini, Francesca Giovannetti and Rocco Plateroti
    Citation: Orphanet Journal of Rare Diseases 2022 17:291
  40. Gaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder that adversely affects life expectancy and health-related quality of life (HRQOL). Although HRQOL questionnaires are available for...

    Authors: Yuta Koto, Aya Narita, Shinichi Noto, Midori Ono, Anna Lissa Hamada and Norio Sakai
    Citation: Orphanet Journal of Rare Diseases 2022 17:280

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:67

  41. Fabry Disease (FD) is a rare X-linked metabolic lysosomal disorder. FD has a broad range of symptoms which vary markedly between patients. The heterogenous nature of the disease makes diagnosis difficult for h...

    Authors: Lisa Bashorum, Gerard McCaughey, Owen Evans, Ashley C. Humphries, Richard Perry and Alasdair MacCulloch
    Citation: Orphanet Journal of Rare Diseases 2022 17:266
  42. Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficit of lysosomal hydrolases involved in the degradation of glycosaminoglycans (GAGs). The course is chronic and progres...

    Authors: Simona Sestito, Giada Rinninella, Angelica Rampazzo, Francesca D’Avanzo, Lucia Zampini, Lucia Santoro, Orazio Gabrielli, Agata Fiumara, Rita Barone, Nicola Volpi, Maurizio Scarpa, Rosella Tomanin and Daniela Concolino
    Citation: Orphanet Journal of Rare Diseases 2022 17:251
  43. During the coronavirus disease-19 (COVID-19) pandemic, vulnerable populations must be identified to prevent increased mortality. Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to chro...

    Authors: Christina Bothou, Lanja Saleh, Arnold von Eckardstein, Felix Beuschlein and Albina Nowak
    Citation: Orphanet Journal of Rare Diseases 2022 17:250
  44. Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare dise...

    Authors: Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha and Roberto Giugliani
    Citation: Orphanet Journal of Rare Diseases 2022 17:238
  45. Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which resul...

    Authors: Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn and Maciej Machaczka
    Citation: Orphanet Journal of Rare Diseases 2022 17:234
  46. Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. Mutations in the CTNS gene disable a membrane protein responsible for the transport of cystine out...

    Authors: Emma Hector, Donald Cairns and G. Michael Wall
    Citation: Orphanet Journal of Rare Diseases 2022 17:231
  47. There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (...

    Authors: K. Savostyanov, A. Pushkov, I. Zhanin, N. Mazanova, S. Trufanov, A. Pakhomov, A. Alexeeva, D. Sladkov, A. Asanov and A. Fisenko
    Citation: Orphanet Journal of Rare Diseases 2022 17:199
  48. Lysosomal acid lipase deficiency (LALD) is an ultra-rare, inherited metabolic disease within the category of lysosomal storage disorders, affecting an infant’s ability to metabolise cholesterol. Developments i...

    Authors: S. Hassall, D. M. Smith, S. Rust, S. A. Jones and A. Wittkowski
    Citation: Orphanet Journal of Rare Diseases 2022 17:193
  49. Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first ...

    Authors: Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer and Christian Beetz
    Citation: Orphanet Journal of Rare Diseases 2022 17:179
  50. Pain occurs in the majority of patients with late onset Pompe disease (LOPD) and is associated with a reduced quality of life. The aim of this study was to analyse the pain characteristics and its relation to ...

    Authors: Elena K. Enax-Krumova, Iris Dahlhaus, Jonas Görlach, Kristl G. Claeys, Federica Montagnese, llka Schneider, Dietrich Sturm, Tanja Fangerau, Hannah Schlierbach, Angela Roth, Julia V. Wanschitz, Wolfgang N. Löscher, Anne-Katrin Güttsches, Stefan Vielhaber, Rebecca Hasseli, Lea Zunk…
    Citation: Orphanet Journal of Rare Diseases 2022 17:177