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  1. Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-d...

    Authors: Janina Grau, Johann Philipp Zöllner, Susanne Schubert-Bast, Gerhard Kurlemann, Christoph Hertzberg, Adelheid Wiemer-Kruel, Thomas Bast, Astrid Bertsche, Ulrich Bettendorf, Barbara Fiedler, Andreas Hahn, Hans Hartmann, Frauke Hornemann, Ilka Immisch, Julia Jacobs, Matthias Kieslich…

    Citation: Orphanet Journal of Rare Diseases 2021 16:282

    Content type: Research

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  2. Hemophagocytic lymphohistiocytosis during pregnancy is rare; it is often misdiagnosed, resulting in a high maternal and foetal mortality rate. Herein, based on limited case reports including antepartum and pos...

    Authors: Lidong Liu, Yutong Cui, Qiongjie Zhou, Huanqiang Zhao and Xiaotian Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:281

    Content type: Review

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  3. Antiphospholipid Syndrome (APS) is a rare autoimmune disorder with an estimated prevalence of 40–50 cases per 100.000 persons. Patients suffering from low prevalence diseases are more likely to face diagnostic...

    Authors: Massimo Radin, Silvia Grazietta Foddai, Alice Barinotti, Irene Cecchi, Elena Rubini, Savino Sciascia and Dario Roccatello

    Citation: Orphanet Journal of Rare Diseases 2021 16:280

    Content type: Research

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  4. Lymphangioleiomyomatosis (LAM) is a rare multisystem disease characterized by cystic lung disease and extrapulmonary manifestations, including lymphatic system disorder. The objective of this study was to inve...

    Authors: Guozhu Hou, Yuanyuan Jiang, Wenshuai Xu, Zhaohui Zhu, Li Huo, Xiaoyuan Chen, Fang Li, Kai-Feng Xu and Wuying Cheng

    Citation: Orphanet Journal of Rare Diseases 2021 16:279

    Content type: Research

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  5. Consanguineous families have a relatively high prevalence of genetic disorders caused by bi-allelic mutations in recessive genes. This study aims to evaluate the effectiveness and efficiency of a consanguinity...

    Authors: Ren-Juan Shen, Jun-Gang Wang, Yang Li and Zi-Bing Jin

    Citation: Orphanet Journal of Rare Diseases 2021 16:278

    Content type: Research

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  7. Overweight and obesity are common features of the rare disease Bardet–Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in th...

    Authors: Jeremy Pomeroy, Jeffrey J. VanWormer, Jill R. Meilahn, Tara Maki, Hema R. Murali and Robert M. Haws

    Citation: Orphanet Journal of Rare Diseases 2021 16:276

    Content type: Research

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  8. Rare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health is...

    Authors: Francesca Gorini, Alessio Coi, Lorena Mezzasalma, Silvia Baldacci, Anna Pierini and Michele Santoro

    Citation: Orphanet Journal of Rare Diseases 2021 16:275

    Content type: Research

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  9. This observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis.

    Authors: Jiao Zhang, Xulei Cui, Si Chen, Yi Dai, Yuguang Huang and Shuyang Zhang

    Citation: Orphanet Journal of Rare Diseases 2021 16:274

    Content type: Research

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  10. The differential diagnosis of diffuse cystic lung disease (DCLD) is a clinical challenge. We wish to analyze the distribution of the etiology of DCLD based on data from a single lymphangioleiomyomatosis (LAM) ...

    Authors: Han Cui, Chongsheng Cheng, Wenshuai Xu, Xinlun Tian, Yanli Yang, Yani Wang, Jiannan Huang, Yudi He, Jun Wang, Ruie Feng, Weihong Zhang and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2021 16:273

    Content type: Research

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  11. Langerhans cell histiocytosis (LCH) is a rare neoplastic disease that occurs in both children and adults, and BRAF V600E is detected in up to 64% of the patients. Several studies have discussed the associations b...

    Authors: Shunqiao Feng, Lin Han, Mei Yue, Dixiao Zhong, Jing Cao, Yibing Guo, Yanling Sun, Hao Zhang, Zhenhua Cao, Xiaodai Cui and Rong Liu

    Citation: Orphanet Journal of Rare Diseases 2021 16:272

    Content type: Research

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  12. Severe epidermolysis bullosa simplex (EBS sev) is a rare genodermatosis characterized by congenital generalized blistering and mucosal involvement. Increased needs and decreased intake quickly lead to nutritio...

    Authors: M. Marro, S. De Smet, D. Caldari, C. Lambe, S. Leclerc-Mercier and C. Chiaverini

    Citation: Orphanet Journal of Rare Diseases 2021 16:271

    Content type: Letter to the Editor

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  13. To evaluate the safety and preliminary efficacy of topical rVA576, a dual inhibitor of complement component 5 (C5) and leukotriene B4 (LTB4), in patients with recalcitrant atopic keratoconjunctivitis (AKC) in ...

    Authors: Sara Sánchez-Tabernero, Julia Fajardo-Sanchez, Wynne Weston-Davies, Mohit Parekh, Jaime Kriman, Stephen Kaye and Sajjad Ahmad

    Citation: Orphanet Journal of Rare Diseases 2021 16:270

    Content type: Letter to the Editor

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  14. We intended to investigate the clinical features of paediatric patients with chronic active Epstein–Barr virus infection (CAEBV) and to examine the effectiveness of the L-DEP regimen before haematopoietic stem...

    Authors: Honghao Ma, Liping Zhang, Ang Wei, Jun Yang, Dong Wang, Qing Zhang, Yunze Zhao, Sitong Chen, Hongyun Lian, Li Zhang, Chunju Zhou, Maoquan Qin, Zhigang Li, Tianyou Wang and Rui Zhang

    Citation: Orphanet Journal of Rare Diseases 2021 16:269

    Content type: Research

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  15. Dozens of genes are involved in 46, XY differences in sex development (DSD). Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene variant identified cannot fully explain the cl...

    Authors: Yiping Cheng, Jing Chen, Xinli Zhou, Jiangfei Yang, Yiming Ji and Chao Xu

    Citation: Orphanet Journal of Rare Diseases 2021 16:268

    Content type: Research

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  16. Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients’ genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase ...

    Authors: Pascal Brouillard, Matthieu J. Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser, Elodie Fastré, Simon Boutry, Sandra Schmitz, Philippe Clapuyt, Frank Hammer, Anne Dompmartin, Annamaria Weitz-Tuoretmaa, Jussi Laranne, Louise Pasquesoone, Catheline Vilain, Laurence M. Boon…

    Citation: Orphanet Journal of Rare Diseases 2021 16:267

    Content type: Research

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  17. Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly...

    Authors: Juan González-Moreno, Aina Gaya-Barroso, Inés Losada-López, Adrián Rodríguez, Teresa Bosch-Rovira, Tomás Ripoll-Vera, Mercedes Usón, Antoni Figuerola, Cristina Descals, Carles Montalà, María Asunción Ferrer-Nadal and Eugenia Cisneros-Barroso

    Citation: Orphanet Journal of Rare Diseases 2021 16:266

    Content type: Research

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  18. Orphan drug designations are a useful proxy to investigate trends in rare disease drug development. Drug developers must receive a designation before they are eligible for the economic incentives of the Orphan...

    Authors: Kathleen L. Miller, Lewis J. Fermaglich and Janet Maynard

    Citation: Orphanet Journal of Rare Diseases 2021 16:265

    Content type: Research

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  19. Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms ...

    Authors: Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love and Alan Shields

    Citation: Orphanet Journal of Rare Diseases 2021 16:264

    Content type: Research

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  21. Rare diseases are ailments which impose a heavy burden on individual patients and global society as a whole. The rare disease management landscape is not a smooth one—a rare disease is quite often hard to diag...

    Authors: Xiaoshu Cai, Georgi Z. Genchev, Ping He, Hui Lu and Guangjun Yu

    Citation: Orphanet Journal of Rare Diseases 2021 16:262

    Content type: Research

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  22. To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test.

    Authors: Yu-Liang Jiang, Xiao-Dong Xu, Bai-Rong Li, En-Da Yu, Zi-Ye Zhao and Hong Liu

    Citation: Orphanet Journal of Rare Diseases 2021 16:261

    Content type: Research

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  23. Kaposiform lymphangiomatosis (KLA), which is a new subtype of generalized lymphatic anomaly, is a rare disease with a poor prognosis. Currently, there is no standard treatment due to the poor understanding of ...

    Authors: Jiangyuan Zhou, Kaiying Yang, Siyuan Chen and Yi Ji

    Citation: Orphanet Journal of Rare Diseases 2021 16:260

    Content type: Research

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  25. To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis...

    Authors: Ying Zhu, Ruyi Wang, Yun Cheng, Yang Han, Tengyan Li, Yunxia Cao and Binbin Wang

    Citation: Orphanet Journal of Rare Diseases 2021 16:258

    Content type: Research

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  26. This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec.

    Authors: Andrea Sodi, Sandro Banfi, Francesco Testa, Michele Della Corte, Ilaria Passerini, Elisabetta Pelo, Settimio Rossi and Francesca Simonelli

    Citation: Orphanet Journal of Rare Diseases 2021 16:257

    Content type: Research

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  27. While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinic...

    Authors: Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L. Couce and Luís Aldámiz-Echevarría

    Citation: Orphanet Journal of Rare Diseases 2021 16:256

    Content type: Research

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  29. Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is ef...

    Authors: Vaneisse C. L. Monteiro, Bibiana M. de Oliveira, Bruna B. dos Santos, Fernanda Sperb-Ludwig, Lilia F. Refosco, Tatiele Nalin, Terry G. J. Derks, Carolina F. Moura de Souza and Ida V. D. Schwartz

    Citation: Orphanet Journal of Rare Diseases 2021 16:254

    Content type: Research

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  30. Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result ...

    Authors: Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila and Sarah Landis

    Citation: Orphanet Journal of Rare Diseases 2021 16:253

    Content type: Research

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  31. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu and Yuying Zhao

    Citation: Orphanet Journal of Rare Diseases 2021 16:252

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2018 13:109

  32. The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to genera...

    Authors: Giulia Bassanese, Tanja Wlodkowski, Aude Servais, Laurence Heidet, Dario Roccatello, Francesco Emma, Elena Levtchenko, Gema Ariceta, Justine Bacchetta, Giovambattista Capasso, Augustina Jankauskiene, Marius Miglinas, Pietro Manuel Ferraro, Giovanni Montini, Jun Oh, Stephane Decramer…

    Citation: Orphanet Journal of Rare Diseases 2021 16:251

    Content type: Research

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  33. Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter study estimated the costs and related cost drivers as...

    Authors: Johann Philipp Zöllner, Janina Grau, Felix Rosenow, Matthias Sauter, Markus Knuf, Gerhard Kurlemann, Thomas Mayer, Christoph Hertzberg, Astrid Bertsche, Ilka Immisch, Karl Martin Klein, Susanne Knake, Klaus Marquard, Sascha Meyer, Anna H. Noda, Felix von Podewils…

    Citation: Orphanet Journal of Rare Diseases 2021 16:250

    Content type: Research

    Published on:

  34. Patients with rare cancers face challenges in the diagnostic and treatment phase, and in access to clinical expertise. Since studies on health care experiences of these patients in comparison to patients with ...

    Authors: Eline de Heus, Vivian Engelen, Irene Dingemans, Carol Richel, Marga Schrieks, Jan Maarten van der Zwan, Marc G. Besselink, Mark I. van Berge Henegouwen, Carla M. L. van Herpen and Saskia F. A. Duijts

    Citation: Orphanet Journal of Rare Diseases 2021 16:249

    Content type: Research

    Published on:

  35. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter and Howard M. Lederman

    Citation: Orphanet Journal of Rare Diseases 2021 16:248

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:123

  36. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Leverence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann and Raul Urrutia

    Citation: Orphanet Journal of Rare Diseases 2021 16:247

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:66

  37. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson…

    Citation: Orphanet Journal of Rare Diseases 2021 16:246

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:328

  38. Marfan syndrome (MFS) is a genetically determined systemic connective tissue disorder, caused by a mutation in the FBN1 gene. In MFS mainly the cardiovascular, musculoskeletal and ocular systems are affected. The...

    Authors: Roland Stengl, Bence Ágg, Miklós Pólos, Gábor Mátyás, Gábor Szabó, Béla Merkely, Tamás Radovits, Zoltán Szabolcs and Kálmán Benke

    Citation: Orphanet Journal of Rare Diseases 2021 16:245

    Content type: Review

    Published on:

  39. Charcot–Marie–Tooth (CMT) disease is an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly...

    Authors: Xiaohui Duan, Xiaoxuan Liu, Guochun Wang, Weihong Gu, Min Xu, Ying Hao, Mingrui Dong, Qing Sun, Shaojie Sun, Yuanyuan Chen, Wei Wang, Jing Li, Yuting Zhang, Zhenhua Cao, Dongsheng Fan, Renbin Wang…

    Citation: Orphanet Journal of Rare Diseases 2021 16:244

    Content type: Research

    Published on:

  40. Tuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose presentation in adults is less well known. This study describes the clinical and genetic char...

    Authors: Elena Cristina De Sautu De Borbón, Juan Manuel Guerra Vales, Carlos Lumbreras Bermejo, Felix Guerrero Ramos, María José Buj Padilla, Jesús González de la Aleja and Montserrat Morales Conejo

    Citation: Orphanet Journal of Rare Diseases 2021 16:243

    Content type: Research

    Published on:

  42. Mucopolysaccharidoses (MPS) are rare, inherited lysosomal storage disorders characterized by progressive multiorgan involvement. Previous studies on incidence and prevalence of MPS mainly focused on countries ...

    Authors: Yana Puckett, Alejandra Mallorga-Hernández and Adriana M. Montaño

    Citation: Orphanet Journal of Rare Diseases 2021 16:241

    Content type: Research

    Published on:

  44. Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chr...

    Authors: Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel and Jolanta Sykut-Cegielska

    Citation: Orphanet Journal of Rare Diseases 2021 16:239

    Content type: Research

    Published on:

  45. Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publicatio...

    Authors: Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza…

    Citation: Orphanet Journal of Rare Diseases 2021 16:238

    Content type: Research

    Published on:

  46. Duchenne muscular dystrophy (DMD) is a severe rare progressive inherited neuromuscular disorder, leading to loss of ambulation (LOA) and premature mortality. The standard of care for patients with DMD has been...

    Authors: Shelagh M. Szabo, Renna M. Salhany, Alison Deighton, Meagan Harwood, Jean Mah and Katherine L. Gooch

    Citation: Orphanet Journal of Rare Diseases 2021 16:237

    Content type: Review

    Published on:

  47. Little is known about the spectrum of everyday challenges that people with skeletal dysplasia face because of their health and functioning. We aimed to identify factors related to health, functioning and disab...

    Authors: Heidi Anttila, Susanna Tallqvist, Minna Muñoz, Sanna Leppäjoki-Tiistola, Outi Mäkitie and Sinikka Hiekkala

    Citation: Orphanet Journal of Rare Diseases 2021 16:236

    Content type: Research

    Published on:

  48. Wolman disease is a rare, lysosomal storage disorder in which biallelic variants in the LIPA gene result in reduced or complete lack of lysosomal acid lipase. The accumulation of the substrates; cholesterol ester...

    Authors: Jane E. Potter, Gemma Petts, Arunabha Ghosh, Fiona J. White, Jane L. Kinsella, Stephen Hughes, Jane Roberts, Adam Hodgkinson, Kathryn Brammeier, Heather Church, Christine Merrigan, Joanne Hughes, Pamela Evans, Helen Campbell, Denise Bonney, William G. Newman…

    Citation: Orphanet Journal of Rare Diseases 2021 16:235

    Content type: Research

    Published on:

  49. Neurofibromatosis Type 1 (NF1) is a genetic disorder that presents with physical symptoms that can negatively impact numerous areas of one’s life, including occupational and psychological functioning, with dec...

    Authors: Frank D. Buono, Matthew E. Sprong, Erina Paul, Staci Martin, Kaitlyn Larkin and Amir Garakani

    Citation: Orphanet Journal of Rare Diseases 2021 16:234

    Content type: Research

    Published on:

  50. Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid α-glucosidase gene (GAA) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identi...

    Authors: Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero and Hada C. Macher

    Citation: Orphanet Journal of Rare Diseases 2021 16:233

    Content type: Research

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172