Articles

Eat, breathe, sleep with Osteogenesis Imperfecta

Although Osteogenesis Imperfecta (OI) affects the connective tissue causing extremely brittle bones with consequent skeletal deformities, it is important to go beyond bones. Indeed, the quality of life in OI d...

Authors: Antonella LoMauro, Carlo Vittorio Landoni, Paolo Fraschini, Franco Molteni, Andrea Aliverti, Simona Bertoli and Ramona De Amicis

Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study

Indolent systemic mastocytosis (ISM) is a rare, clonal mast cell neoplasm characterized by severe, unpredictable symptoms. The Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) items compose a T...

Authors: Brad Padilla, Alan L. Shields, Fiona Taylor, Xiaoran Li, Jeffrey Mcdonald, Tanya Green, Anthony L. Boral, Hui-Min Lin, Cem Akin, Frank Siebenhaar and Brenton Mar

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A

Charcot–Marie–Tooth disease type 1A (CMT1A) is a rare, orphan, hereditary neuromuscular disorder with no cure and for which only symptomatic treatment is currently available. A previous phase 2 trial has shown...

Authors: Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Céline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter…

Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay

This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Authors: Isabelle Lessard, Raphaël St-Gelais, Luc J. Hébert, Isabelle Côté, Jean Mathieu, Bernard Brais and Cynthia Gagnon

In-depth phenotyping for clinical stratification of Gaucher disease

The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision...

Authors: Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra…

Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis

There is an increasing number of papers reporting the real world use of Nusinersen in different cohorts of SMA patients.

Authors: Giorgia Coratti, Costanza Cutrona, Maria Carmela Pera, Francesca Bovis, Marta Ponzano, Fabrizia Chieppa, Laura Antonaci, Valeria Sansone, Richard Finkel, Marika Pane and Eugenio Mercuri

Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective

Late-onset Pompe Disease (LOPD) is a rare, heterogeneous disease manifested by a range of symptoms varying in severity. Research establishing the frequency of these symptoms and their impact on patients’ daily...

Authors: Alaa Hamed, Kristina An Haack, Chad Gwaltney, Eileen Baranowski, Andrew Stewart, Robert Krupnick, Margaret Tyler, Susan Sparks and Jean Paty

The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease

Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by multiorgan dysfunction. Since individuals with FD usually experience progressive clinical disease manifestations, their health-rela...

Authors: Solrun Sigurdardottir, Birgitte Bjerkely, Trond G. Jenssen, Per Mathisen, Charlotte von der Lippe, Kristin Ørstavik, Ketil Heimdal, Dag Olav Dahle, Mina Susanne Weedon-Fekjær, Olga Solberg and Hege K. Pihlstrøm

Clinical and ultrasound characteristics of virilizing ovarian tumors in pre- and postmenopausal patients: a single tertiary center experience

A virilizing ovarian tumor (VOT) is a rare cause of hyperandrogenism in pre- and postmenopausal women. Although transvaginal ultrasound is considered as the first-line imaging method for ovarian tumors, it is ...

Authors: Mi Zou, Rong Chen, Yahong Wang, Yonglan He, Ying Wang, Yifan Dong and Jianchu Li

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at b...

Authors: Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni and Enrico Bertini

Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations

Hyperinsulinemic hypoglycemia (HI) is the most frequent cause of recurrent hypoglycemia in children. Despite diagnostic and therapeutic advances, it remains an important cause of morbidity, leading to neurolog...

Authors: Arianna Maiorana, Stefania Caviglia, Benedetta Greco, Paolo Alfieri, Francesca Cumbo, Carmen Campana, Silvia Maria Bernabei, Raffaella Cusmai, Antonella Mosca and Carlo Dionisi-Vici

Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study

Glycogen storage disease type I (GSD-I) is an autosomal recessive disorder of carbohydrate metabolism, resulting in limited production of glucose and excessive glycogen storage in the liver and kidneys. These ...

Authors: Yi-Chia Chan, Kai-Min Liu, Chao-Long Chen, Aldwin D. Ong, Chih-Che Lin, Chee-Chien Yong, Pei-Chun Tsai, Liang-Suei Lu and Jer-Yuarn Wu

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the...

Authors: Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy…

Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational study

Hypoparathyroidism (HypoPT) or pseudo-hypoparathyroidism (pseudo-HypoPT) during pregnancy may cause maternal and fetal/neonatal complications. In this regard, only a few case reports or case series of pregnant...

Authors: Gemma Marcucci, Paola Altieri, Salvatore Benvenga, Marta Bondanelli, Valentina Camozzi, Filomena Cetani, Luisella Cianferotti, Mirko Duradoni, Caterina Fossi, Ettore degli Uberti, Fausto Famà, Giovanna Mantovani, Claudio Marcocci, Laura Masi, Uberto Pagotto, Andrea Palermo…

Executive functions and quality of life in children with neurofibromatosis type 1

To examine the impact of executive function disorders on health-related quality of life (QoL) in children with neurofibromatosis type 1 (NF1), we conducted a prospective single-center study among 40 children w...

Authors: Arnaud Roy, Jean-Luc Roulin, Christèle Gras-Le Guen, Marie-Laure Corbat and Sébastien Barbarot

Nintedanib in idiopathic and secondary pleuroparenchymal fibroelastosis

Pleuroparenchymal fibroelastosis (PPFE) has a variable disease course with dismal prognosis in the majority of patients with no validated drug therapy. This study is to evaluate the effect of nintedanib in pat...

Authors: Mouhamad Nasser, Salim Si-Mohamed, Ségolène Turquier, Julie Traclet, Kaïs Ahmad, François Philit, Philippe Bonniaud, Lara Chalabreysse, Françoise Thivolet-Béjui and Vincent Cottin

Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy

Hemihyperplasia and hemihypoplasia result in leg length discrepancy (LLD) by causing skeletal asymmetry. Beckwith–Wiedemann syndrome (BWS) and Silver–Russell syndrome (SRS) are opposite growth-affecting disord...

Authors: Chang Ho Shin, Chaemoon Lim, Hwa Young Kim, Won Joon Yoo, Tae-Joon Cho, In Ho Choi and Jung Min Ko

Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ⁵-C₂₇-steroid oxidoreductase (HSD3B7) deficiency in China

Biallelic variants in HSD3B7 cause 3β-hydroxy-Δ⁵-C₂₇-steroid oxidoreductase (HSD3B7) deficiency, a life-threatening but treatable liver disease. The goal of this study was to obtain detailed information on the co...

Authors: Jing Zhao, Kenneth D. R. Setchell, Ying Gong, Yinghua Sun, Ping Zhang, James E. Heubi, Lingjuan Fang, Yi Lu, Xinbao Xie, Jingyu Gong and Jian-She Wang

One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is th...

Authors: Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak and Chunxiu Gong

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias

Congenital hemolytic anemias (CHAs) comprise defects of the erythrocyte membrane proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis. These rare and heterogeneous condit...

Authors: Bruno Fattizzo, Juri Alessandro Giannotta, Nicola Cecchi and Wilma Barcellini

Development of symptom-focused outcome measures for advanced and indolent systemic mastocytosis: the AdvSM-SAF and ISM-SAF^©

Advanced systemic mastocytosis (AdvSM), indolent systemic mastocytosis (ISM), and smoldering systemic mastocytosis (SSM) are rare diseases characterized by neoplastic mast cell infiltration of more than one or...

Authors: Fiona Taylor, Cem Akin, Roger E. Lamoureux, Brad Padilla, Tanya Green, Anthony L. Boral, Iyar Mazar, Brenton Mar, Alan L. Shields and Frank Siebenhaar

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in child...

Authors: Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili…

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasi...

Authors: Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo and Tero-Pekka Alastalo

Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression

Hereditary transthyretin-mediated amyloidosis, also known as ATTRv amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic amyloid progressively impairs multiple organs, le...

Authors: David Adams, Vincent Algalarrondo, Michael Polydefkis, Nitasha Sarswat, Michel S. Slama and Jose Nativi-Nicolau

Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity

Abnormalities of the immune system are rarely reported in patients affected by RASopathies. Aim of the current study was to investigate the prevalence of immune system dysfunction in a cohort of patients affec...

Authors: M. A. Siano, V. Marchetti, S. Pagano, F. Di Candia, M. Alessio, D. De Brasi, A. De Luca, V. Pinna, S. Sestito, D. Concolino, M. Tartaglia, P. Strisciuglio, V. D’Esposito, S. Cabaro, G. Perruolo, P. Formisano…

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island country, has been implemented since the 1990s. However, only recently, a national CF patient registry has been established for the s...

Authors: Panayiotis K. Yiallouros, Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Tonia Adamidi, Adonis Eleftheriou, Artemios Demetriou, Phivos Ioannou, George A. Tanteles, Constantina Costi, Pavlos Fanis, Milan Macek, Vassos Neocleous and Leonidas A. Phylactou

Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients

In 2001, Fondazione Telethon and the Italian muscular dystrophy patient organisation Unione Italiana Lotta alla Distrofia Muscolare joined their efforts to design and launch a call for grant applications speci...

Authors: Anna Ambrosini, Danila Baldessari, Silvia Pozzi, Manuela Battaglia, Elena Beltrami, Anna Maria Merico, Marco Rasconi and Lucia Monaco

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondr...

Authors: Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí and Carmen Paradas

Physiotherapy for epidermolysis bullosa: clinical practice guidelines

Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or friction. Current physiotherapy practice is bas...

Authors: Amy Weisman, Jennifer M. Chan, Chantal LaPointe, Kaye Sjoholm, Kristy Steinau, Kaycie Artus, Suci Widhiati, Rebecca Bodan, Michelle Wood, Julio C. Salas-Alanis, Anna Carolina Rocha, Beata Faitli and Phuong Khuu

Left ventricular myocardial deformation assessment in asymptomatic patients with recently diagnosed sarcoidosis of the respiratory tract and/or extrapulmonary sarcoidosis

Sarcoidosis is a systemic granulomatous disease affecting different organs including the heart. Myocardial strain analysis could potentially detect the early stages of cardiac dysfunction in sarcoidosis patien...

Authors: Roman Panovský, Martina Doubková, Mary Luz Mojica-Pisciotti, Tomáš Holeček, Jan Máchal, Věra Feitová, Lucia Masárová, Lukáš Opatřil, Vladimír Kincl and Jana Víšková

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males. Those living with BS have severe exercise intolerance, lethargy ...

Authors: Aidan Searle, Georgia Herbert, Lucy Dabner, Colin G. Steward, Michaela Damin and Guido Pieles

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transp...

Authors: Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian and Chanjuan Hao

Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support

The diagnosis of the rare genetic diseases has great importance in treating multisystemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of obtaini...

Authors: Ayse B. Kolemen, Enes Akyuz, Ali Toprak, Erdem Deveci and Gozde Yesil

Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study

Although the clinical efficacy of laminoplasty in adult cervical spondylotic myelopathy or ossification of posterior longitudinal ligament has been frequently reported, there are only few reports of laminoplas...

Authors: Hidetomi Terai, Koji Tamai, Masatoshi Hoshino, Hiromitsu Toyoda, Akinobu Suzuki, Shinji Takahashi, Yusuke Hori, Akito Yabu and Hiroaki Nakamura

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

During their studies, future physicians are often taught that while evaluating a patient they should first consider a common diagnosis and not a rare one. Consequently, although most physicians will face the d...

Authors: Dariusz Walkowiak and Jan Domaradzki

HAE patient self-sampling for biomarker establishment

Hereditary Angioedema (HAE) is a genetic disorder that leads to frequent angioedema attacks in various parts of the body. In most cases it is caused by pathogenic variants in the SERPING1 gene, coding for C1-Inhi...

Authors: Toni M. Förster, Markus Magerl, Marcus Maurer, Selen Zülbahar, Susanne Zielke, Neil Inhaber, Donatello Crocetta, Arndt Rolfs and Volha Skrahina

Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China

Hereditary hemochromatosis (HH) is widely recognized and clinical manifestations of hemochromatosis-related (HFE-related) HH is well studied in European populations. Less is known about the clinical and laborator...

Authors: Liyan Wu, Wei Zhang, Yanmeng Li, Donghu Zhou, Bei Zhang, Anjian Xu, Zhen Wu, Lina Wu, Shuxiang Li, Xiaoming Wang, Xinyan Zhao, Qianyi Wang, Min Li, Yu Wang, Hong You, Jian Huang…

Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety

Authors: Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen and Saskia B. Wortmann

Clinical features of lupus enteritis: a single-center retrospective study

Lupus enteritis (LEn) is a rare complication of systemic lupus erythematosus (SLE). Timely diagnosis and treatment of LEn are necessary to prevent the most serious consequences — intestinal perforation, gastro...

Authors: Long Chen, Qin He, Man Luo, Yuxiao Gou, Dan Jiang, Xiaoqin Zheng, Gaowu Yan and Fang He

Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry

Telomere biology disorders (TBD) such as dyskeratosis congenita (DKC) lead to progressive multi-organ failure as impaired telomere maintenance disturbs cellular proliferative capacity. A wide range of hepatic ...

Authors: Mareike Tometten, Martin Kirschner, Susanne Isfort, Marie-Luise Berres, Tim H. Brümmendorf and Fabian Beier

Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA: insights from the first managed access agreement

Managed access agreements provide a crucial mechanism whereby real-world data can be collected systematically to reduce uncertainty around available clinical and economic data, whilst providing the opportunity...

Authors: Bob Stevens, Tom Kenny, Sophie Thomas, Alexandra Morrison, James Jarrett and Mohit Jain

Physical and mental growth and development in children with congenital hypothyroidism: a case–control study

The clinical complications of congenital hypothyroidism such as brain disorders are very subtle and are not recognizable in infancy period. They are recognizable when it is too late for treatment or prevention...

Authors: Javad Nazari, Kimia Jafari, Maryam Chegini, Akram Maleki, Pari MirShafiei, Ali Alimohammadi, Yasan Kazemzadeh, Reihaneh Mikaeliyan and Saeed Amini

Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8

Isobutyryl-CoA dehydrogenase deficiency (IBDD) is a rare autosomal recessive metabolic disorder resulting from variants in ACAD8, and is poorly understood, as only dozens of cases have been reported previously. B...

Authors: Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang and Fan Tong

Potential markers for sample size estimations in hereditary spastic paraplegia type 5

Aim to identify potential biomarkers to assess therapeutic efficacy for hereditary spastic paraplegias type 5 (SPG5) by investigating the clinical, cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI...

Authors: Qianqian Lin, Ying Liu, Zhixian Ye, Jianping Hu, Wenjie Cai, Qiang Weng, Wan-Jin Chen, Ning Wang, Dairong Cao, Yi Lin and Ying Fu

Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia

Approximately 10% of hereditary hemorrhagic telangiectasia (HHT) patients harbour brain vascular malformations (VMs). Intracranial hemorrhage (ICH) from brain VMs can lead to death or morbidity, while treatmen...

Authors: K. P. Thompson, J. Nelson, H. Kim, S. M. Weinsheimer, D. A. Marchuk, M. T. Lawton, T. Krings and M. E. Faughnan

Norm-based comparison of the quality-of-life impact of ravulizumab and eculizumab in paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and life-threatening intravascular hematologic disorder with significant morbidity and premature mortality. Clinical trials (NCT02946463 and NCT03056040) com...

Authors: Carolyn E. Schwartz, Roland B. Stark, Katrina Borowiec, Sandra Nolte and Karl-Johan Myren

Cholbam® and Zellweger spectrum disorders: treatment implementation and management

Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective pe...

Authors: Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes and Sirish Palle

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis

Nephropathic cystinosis is a rare and severe metabolic disease leading to an accumulation of cystine in lysosomes which especially harms kidney function. A lifelong therapy with the aminothiol cysteamine can d...

Authors: Christina van Stein, Sabrina Klank, Marianne Grüneberg, Chris Ottolenghi, Jürgen Grebe, Janine Reunert, Erik Harms and Thorsten Marquardt

PACS1-Neurodevelopmental disorder: clinical features and trial readiness

PACS1-Neurodevelopmental Disorder (PACS1-NDD) is an ultra-rare condition due to a recurrent mutation in the PACS1 gene. Little systematically collected data exist about the functional abilities and neurodevelopme...

Authors: Abigail Van Nuland, Taruna Reddy, Farhad Quassem, Jean-Dominique Vassalli and Anne T. Berg

Functional results after carpal tunnel release in mucopolysaccharidosis

Mucopolysaccharidosis consists of a group of diseases caused by the deficiency of lysosomal enzymes, which may lead to the compression of the median nerve in the carpal tunnel due to the accumulation of glycos...

Authors: Giana Silveira Giostri, Camila Deneka Arantes Souza, Alencar Kenji Nagai, Mara Lucia Schmitz Ferreira Santos, José Silvany Pacheco Sampaio Neto and Flavia David João de Masi Nassif