Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 17, 2022 Category: Internal Medicine Authors: Adele D ’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni and Enrico Bertini Tags: Correction Source Type: research

Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals
Lysosomal Storage Diseases (LSDs) are a group of Rare Diseases (RDs) caused by lysosomal enzyme deficiencies. Patients with LSDs suffer from a wide range of symptoms with a strong impact in their daily routine... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 14, 2022 Category: Internal Medicine Authors: Juan de Dios Garc ía-Díaz, Mónica López-Rodríguez, Montserrat Morales-Conejo and Antoni Riera-Mestre Tags: Research Source Type: research

Ketogenic diet for mitochondrial disease: potential role in treating the Multiple Symmetric Lipomatosis phenotype associated with the common MT-TK genetic mutation
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 10, 2022 Category: Internal Medicine Authors: Andre Mattman, Elizabeth Nadeau, Michelle M. Mezei, Mark Cresswell, Sida Zhao, Taryn Bosdet, Don D. Sin, Jordan A. Guenette, Isabelle Dupuis, Emily Allin and David C. Clarke Tags: Letter to the Editor Source Type: research

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica ’s experience
Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 10, 2022 Category: Internal Medicine Authors: R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodr íguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig and A. Sanabria-Castro Tags: Research Source Type: research

Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research
Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in chi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 10, 2022 Category: Internal Medicine Authors: Trine Bathen, Heidi Johansen, Hilde Str ømme and Gry Velvin Tags: Review Source Type: research

Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study
Protracted febrile myalgia syndrome (PFMS) is a rare complication of Familial Mediterranean fever (FMF). The diagnosis is based on clinical symptoms and is often challenging, especially when PFMS is the initia... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 10, 2022 Category: Internal Medicine Authors: Neta Aviran, Gil Amarilyo, Yaniv Lakovsky, Rotem Tal, Jenny Garkaby, Rubi Haviv, Yosef Uziel, Shiri Spielman, Hamada Mohammad Natour, Yonatan Herman, Oded Scheuerman, Yonatan Butbul Aviel, Yoel Levinsky and Liora Harel Tags: Research Source Type: research

Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 10, 2022 Category: Internal Medicine Authors: Sarah C. Gr ünert and Jörn Oliver Sass Tags: Correction Source Type: research

The PID Life Index: an interactive tool to measure the status of the PID healthcare environment in any given country
The “Primary Immunodeficiencies (PIDs) principles of care” were published in 2014 as the gold standard for care of patients with PIDs, setting a common goal for stakeholders to ensure that patients with PID ha... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 8, 2022 Category: Internal Medicine Authors: Leire Sol ís, Julia Nordin, Johan Prevot, Nizar Mahlaoui, Silvia Sánchez-Ramón, Adli Ali, Elodie Cassignol, John W. Seymour and Martine Pergent Tags: Research Source Type: research

Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy
Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 6, 2022 Category: Internal Medicine Authors: Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds and Tarekegn Geberhiwot Tags: Research Source Type: research

Small fiber neuropathy for assessment of disease severity in amyotrophic lateral sclerosis: corneal confocal microscopy findings
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with progressive motor system impairment, and recent evidence has identified the extra-motor involvement. Small fiber neuropathy reflec... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 6, 2022 Category: Internal Medicine Authors: Jiayu Fu, Ji He, Yixuan Zhang, Ziyuan Liu, Haikun Wang, Jiameng Li, Lu Chen and Dongsheng Fan Tags: Research Source Type: research

A retrospective cohort study on European Reference Network for Rare Vascular Diseases 5 outcome measures for Hereditary Haemorrhagic Telangiectasia in Denmark
Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by several clinical symptoms including epistaxis, arteriovenous malformations (AVM), and telangiectasia. In 2018, Eu... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 6, 2022 Category: Internal Medicine Authors: Troels Hvelplund, Bibi Lange, Susanne Djernes Bird, Malene Korsholm and Anette Dr øhse Kjeldsen Tags: Research Source Type: research

Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials
Disease-specific patient-reported outcome measures (PROMs) are fundamental to understanding the impact on, and expectations of, patients with genetic disorders, and can facilitate constructive and educated con... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 6, 2022 Category: Internal Medicine Authors: Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Tags: Research Source Type: research

Childhood rare diseases and the UN convention on the rights of the child
This letter discusses an initiative that considered the rights of a child living with a rare disease in the context of the United Nations Convention on the Rights of the Child (UNCRC). The aim was to inform la... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 24, 2021 Category: Internal Medicine Authors: Lisa Matthews, Vaughan Chin, Marisa Taliangis, Amanda Samanek and Gareth Baynam Tags: Letter to the Editor Source Type: research

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study —a multi-center retrospective cohort study of achondroplasia in the US
Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalize... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 23, 2021 Category: Internal Medicine Authors: Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, C Tags: Research Source Type: research

Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre
This study aimed to... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 20, 2021 Category: Internal Medicine Authors: George Altman, Kamran Hussain, Diane Green, Boyd J. G. Strauss and Gisela Wilcox Tags: Research Source Type: research

Clinical, humanistic, and economic burden of severe haemophilia B in adults receiving factor IX prophylaxis: findings from the CHESS II real-world burden of illness study in Europe
Real-world studies of the burden of severe haemophilia B in the context of recent therapeutic advances such as extended half-life (EHL) factor IX (FIX) products are limited. We analysed data from the recent CH... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 20, 2021 Category: Internal Medicine Authors: Tom Burke, Sohaib Asghar, Jamie O ’Hara, Margaret Chuang, Eileen K. Sawyer and Nanxin Li Tags: Research Source Type: research

Effects of socio-economic factors on research over systemic sclerosis: an analysis based on long time series of bibliometric data
Systemic sclerosis (SSc) is a rare detrimental disease warranting global research efforts. Evaluating how socio-economic factors impact country research output on SSc could help to identify solutions advancing... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 20, 2021 Category: Internal Medicine Authors: Wei Guo, Zeyu Zhou, Yinhe Liang, Chuanhui Xu, Lin Zeng, Zhiyong Dong and Rong Mu Tags: Research Source Type: research

A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm
Fabry disease (FD) is a rare genetic disorder characterized by glycosphingolipid accumulation and progressive damage across multiple organ systems. Due to its heterogeneous presentation, the condition is likel... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 20, 2021 Category: Internal Medicine Authors: John L. Jefferies, Alison K. Spencer, Heather A. Lau, Matthew W. Nelson, Joseph D. Giuliano, Joseph W. Zabinski, Costas Boussios, Gary Curhan, Richard E. Gliklich and David G. Warnock Tags: Research Source Type: research

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD ty... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 20, 2021 Category: Internal Medicine Authors: Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong and Duangrurdee Wattanasirichai Tags: Research Source Type: research

National Rare Diseases Registry System (NRDRS): China ’s first nation-wide rare diseases demographic analyses
China has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the last 5 years. The Chinese government ’s systematic approach included a s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 18, 2021 Category: Internal Medicine Authors: Jian Guo, Peng Liu, Limeng Chen, Haohan Lv, Jie Li, Weichao Yu, Kaifeng Xu, Yicheng Zhu, Zhihong Wu, Zhuang Tian, Ye Jin, Rachel Yang, Weihong Gu and Shuyang Zhang Tags: Research Source Type: research

Current status of newborn screening for Pompe disease in Japan
Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 18, 2021 Category: Internal Medicine Authors: Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose and Kimitoshi Nakamura Tags: Research Source Type: research

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 14, 2021 Category: Internal Medicine Authors: Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Th érèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonl Tags: Research Source Type: research

Leukocyte telomere length and amyotrophic lateral sclerosis: a Mendelian randomization study
In this study, we aimed to explore... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 14, 2021 Category: Internal Medicine Authors: Kailin Xia, Linjing Zhang, Gan Zhang, Yajun Wang, Tao Huang and Dongsheng Fan Tags: Research Source Type: research

Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children ’s Hospital in China
Fabry disease (FD) remains poorly recognized, especially in children in China. Considering the diversity and nonspecific clinical manifestations accompanying with life-threatening aspect of this disease, metho... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 14, 2021 Category: Internal Medicine Authors: Qian Shen, Jialu Liu, Jing Chen, Shuizheng Zhou, Yi Wang, Lifei Yu, Li Sun, Liuhui Wang, Bingbing Wu, Fang Liu, Yun Cao, Ying Huang, Jianshe Wang, Chenhao Yang, Daqian Zhu, Yangyang Ma & hellip; Tags: Research Source Type: research

On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum
While classified as a rare condition, a congenital disorder of the corpus callosum (DCC) is one of the most commonly identified brain anomalies in newborns, occurring in 1:4000 live births. Advances in imaging... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 14, 2021 Category: Internal Medicine Authors: Maree Maxfield, Monica S. Cooper, Anne Kavanagh, Alexandra Devine and Liz Gill Atkinson Tags: Research Source Type: research

Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections
Thoracic aortic aneurysm and dissection (TAAD) is a hidden-onset but life-threatening disorder with high clinical variability and genetic heterogeneity. In recent years, an increasing number of genes have been... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 14, 2021 Category: Internal Medicine Authors: Guoyan Zhu, Mingyao Luo, Qianlong Chen, Yinhui Zhang, Kun Zhao, Yujing Zhang, Chang Shu, Hang Yang and Zhou Zhou Tags: Research Source Type: research

Correction to: Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 7, 2021 Category: Internal Medicine Authors: Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang and Fan Tong Tags: Correction Source Type: research

Correction to: Physical and mental growth and development in children with congenital hypothyroidism: a case –control study
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 7, 2021 Category: Internal Medicine Authors: Javad Nazari, Kimia Jafari, Maryam Chegini, Akram Maleki, Pari MirShafei, Ali Alimohammadi, Yasan Kazemzadeh, Reihaneh Mikaeliyan and Saeed Amini Tags: Correction Source Type: research

Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II
Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by cognitive impairment in most patients. This post hoc analysis evaluated changes in cognitive function, adaptive behavior a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 4, 2021 Category: Internal Medicine Authors: Karen S. Yee, Yanyu Wu, Magdalena Harrington and Susan E. Waisbren Tags: Research Source Type: research

Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan
Gaucher disease (GD) is caused by reduced lysosomal enzyme β-glucocerebrosidase activity. Heterogeneous genotypes and phenotypes have been observed within GD types and across ethnicities. Enzyme replacement th... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 4, 2021 Category: Internal Medicine Authors: Rieko Sagara, Masahide Ishigaki, Manami Otsuka, Kei Murayama, Hiroyuki Ida and Jovelle Fernandez Tags: Research Source Type: research

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 4, 2021 Category: Internal Medicine Authors: Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin and Weifeng Zhang Tags: Research Source Type: research

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 4, 2021 Category: Internal Medicine Authors: Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, M élanie Fradin, Chloé Q Tags: Research Source Type: research

RASopathies and hemostatic abnormalities: key role of platelet dysfunction
Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and types of ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 2, 2021 Category: Internal Medicine Authors: Francesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, Alessandro Di Minno, Carmen Rosano, Stefano Pagano, Maria Anna Siano, Mariateresa Falco, Antonia Assunto, Giovanni Boccia, Gerardo Magliacane, Valentina Pinna, Alessandro De Luca, Marco Tartaglia Tags: Research Source Type: research

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients
Research about pediatric patients ’ perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 2, 2021 Category: Internal Medicine Authors: Beth Leiro, Dawn Phillips, Melanie Duiker, Paul Harmatz and Sharon Charles Tags: Research Source Type: research

Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany
Rare diseases occur in early childhood and have a major impact on the quality of life of the affected children and their families. Their need for psychosocial support is considerable, but psychosocial care in ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 27, 2021 Category: Internal Medicine Authors: Stefanie Witt, Kaja Kristensen, Silke Wiegand-Grefe, Johannes Boettcher, Janika Bloemeke, Christina Wingartz, Monika Bullinger and Julia Quitmann Tags: Research Source Type: research

Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic
COVID-19 has affected our society at large, particularly vulnerable groups, such as children suffering from rare diseases and their parents. However, the psychosocial influences of COVID-19 on these have yet t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 27, 2021 Category: Internal Medicine Authors: Mareike Fuerboeter, Johannes Boettcher, Claus Barkmann, Holger Zapf, Rojin Nazarian, Silke Wiegand-Grefe, Konrad Reinshagen and Michael Boettcher Tags: Research Source Type: research

Clinics and genetic background of hereditary gingival fibromatosis
Hereditary gingival fibromatosis (HGF) is a rare condition characterized by slowly progressive overgrowth of the gingiva. The severity of overgrowth may differ from mild causing phonetic and masticatory issues... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 24, 2021 Category: Internal Medicine Authors: Karolina Strzelec, Agata Dziedzic, Katarzyna Łazarz-Bartyzel, Aleksander M. Grabiec, Ewa Gutmajster, Tomasz Kaczmarzyk, Paweł Plakwicz and Katarzyna Gawron Tags: Review Source Type: research

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients ’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 24, 2021 Category: Internal Medicine Authors: Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe and Claire Burbridge Tags: Research Source Type: research

Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE
The TRANSLATE-NAMSE project with the strengthening of the centers for rare diseases with their affiliation to the European Reference Networks was a major step towards the implementation of the German National ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 24, 2021 Category: Internal Medicine Authors: D. Druschke, F. Krause, G. M üller, J. Scharfe, G. F. Hoffmann and J. Schmitt Tags: Research Source Type: research

Development and content validation of a symptom assessment for eosinophilic gastritis and eosinophilic gastroenteritis in adults and adolescents
A patient reported outcome (PRO) instrument with evidence of validity and reliability for assessing symptoms of eosinophilic gastritis (EG) and eosinophilic gastroenteritis (EGE) is needed to measure treatment... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 24, 2021 Category: Internal Medicine Authors: Calvin N. Ho, Sean O ’Quinn, Julie Bailey, Oren Meyers, Ashley F. Slagle, Evan S. Dellon and Catherine Datto Tags: Research Source Type: research

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation
The left ventricular noncompaction cardiomyopathy (LVNC) is a rare subtype of cardiomyopathy associated with a high risk of heart failure (HF), thromboembolism, arrhythmia, and sudden cardiac death. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 24, 2021 Category: Internal Medicine Authors: Yubi Lin, Jiana Huang, Zhiling Zhu, Zuoquan Zhang, Jianzhong Xian, Zhe Yang, Tingfeng Qin, Linxi Chen, Jingmin Huang, Yin Huang, Qiaoyun Wu, Zhenyu Hu, Xiufang Lin and Geyang Xu Tags: Research Source Type: research

Randomized and non-randomized designs for causal inference with longitudinal data in rare disorders
In the United States, approximately 7000 rare diseases affect 30 million patients, and only 10% of these diseases have existing therapies. Sound study design and causal inference methods are essential to demon... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 23, 2021 Category: Internal Medicine Authors: Rima Izem and Robert McCarter Tags: Review Source Type: research

Measuring Duchenne muscular dystrophy impact: development of a proxy-reported measure derived from PROMIS item banks
Person-reported outcomes measurement development for rare diseases has lagged behind that of more common diseases. In studies of caregivers of patients with rare diseases, one relies on proxy report to charact... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 22, 2021 Category: Internal Medicine Authors: Carolyn E. Schwartz, Roland B. Stark, David Cella, Katrina Borowiec, Katherine L. Gooch and Ivana F. Audhya Tags: Research Source Type: research

The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein –Taybi syndromes
Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein –Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cogniti... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 22, 2021 Category: Internal Medicine Authors: Katherine Ellis, Jo Moss, Chrysi Stefanidou, Chris Oliver and Ian Apperly Tags: Research Source Type: research

Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
Low-grade optic pathway glioma (OPG) develops in 15 –20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30–50% and one-third of these require treatment. A few studies have suggested fe... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 22, 2021 Category: Internal Medicine Authors: Anne Munk Henning, Mette M øller Handrup, Sia Mariann Kjeldsen, Dorte Ancher Larsen and Cecilie Ejerskov Tags: Research Source Type: research

Is the combination of bilateral pulmonary nodules and mosaic attenuation on chest CT specific for DIPNECH?
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is characterized by multifocal proliferation of pulmonary neuroendocrine cells. On chest CT, DIPNECH exhibits bilateral pulmonary nodules ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 22, 2021 Category: Internal Medicine Authors: Bilal F. Samhouri, Chi Wan Koo, Eunhee S. Yi and Jay H. Ryu Tags: Research Source Type: research

Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease
The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 20, 2021 Category: Internal Medicine Authors: Yevgeniya Atiskova, Jan Wildner, Martin Stephan Spitzer, Charlotte Aries, Nicole Muschol and Simon Dulz Tags: Research Source Type: research

Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies
Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a neurodegenerative disease caused by the accumulation of mucopolysaccharides in the body. As the symptoms are wide ranging, it is a challenge... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 20, 2021 Category: Internal Medicine Authors: P. P érez-Núñez, E. Lázaro, I. Amayra, J. F. López-Paz, P. Caballero, O. Martínez, M. Pérez, S. Berrocoso, M. Al-Rashaida, M. García, A. A. Rodríguez and P. M. Luna Tags: Research Source Type: research

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy
Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Ph... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 18, 2021 Category: Internal Medicine Authors: Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Sch önherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Ox Tags: Research Source Type: research

Predictors of heart failure symptoms in hereditary hemorrhagic telangiectasia patients with hepatic arteriovenous malformations
Hepatic arteriovenous malformations (AVMs) in hereditary hemorrhagic telangiectasia (HHT) patients are most commonly hepatic artery to hepatic venous shunts which can result in high-output heart failure. This ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 18, 2021 Category: Internal Medicine Authors: Lucas R. Cusumano, Joseph A. Tesoriero, Craig B. Wilsen, James Sayre, Matthew Quirk and Justin P. McWilliams Tags: Research Source Type: research