The impact of rarity in NICE ’s health technology appraisals
In the absence of a framework designed to evaluate medicines for rare diseases in the UK, most orphan medicines are appraised by the National Institute for Health and Care Excellence (NICE) through the Single ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 13, 2021 Category: Internal Medicine Authors: Sophie Clarke, Michelle Ellis and Jack Brownrigg Tags: Research Source Type: research

Calcium channelopathies and intellectual disability: a systematic review
Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 13, 2021 Category: Internal Medicine Authors: Miriam Kessi, Baiyu Chen, Jing Peng, Fangling Yan, Lifen Yang and Fei Yin Tags: Review Source Type: research

Long-term renal outcome in methylmalonic acidemia in adolescents and adults
Chronic kidney disease (CKD) is one of the main long-term prognosis factors in methylmalonic acidemia (MMA), a rare disease of propionate catabolism. Our objective was to precisely address the clinical and bio... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 13, 2021 Category: Internal Medicine Authors: Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaim é, Anaïs Brassier, François Brazier, Jean-François Benoist, Clément Pontoizeau, Chris Ottolenghi, Pauline Krug, Olivia Boyer, Pascale de Lonlay and Aude Servais Tags: Research Source Type: research

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections
Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominentl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 12, 2021 Category: Internal Medicine Authors: Amelie S. Lotz-Havla, Katharina J. Wei ß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele and Esther M. Maier Tags: Research Source Type: research

Involvement of mental health professionals in the treatment of tuberous sclerosis complex –associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey
Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in several organs, including the brain, kidneys, heart, eyes, and lungs. Even though over 90%... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 12, 2021 Category: Internal Medicine Authors: Robert Waltereit, Guillaume Beaure d ’Augères, Jasna Jancic, John Chris Kingswood, Maya Koleva, Ruben Marques, Vicente Villanueva and Stéphane Auvin Tags: Research Source Type: research

The impact of severe rare chronic neurological disease in childhood on the quality of life of families —a study on MLD and PCH2
Rare and severe neurological disorders in childhood not only heavily affect the life perspective of the patients, but also their caregivers and families. The aim of this study was to investigate the impact of ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 10, 2021 Category: Internal Medicine Authors: Louisa Ammann-Schnell, Samuel Groeschel, Christiane Kehrer, Saskia Fr ölich and Ingeborg Krägeloh-Mann Tags: Research Source Type: research

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal stud... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 10, 2021 Category: Internal Medicine Authors: Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang and M. Judith Peterschmitt Tags: Research Source Type: research

Correction to: Assessing rare diseases prevalence using literature quantification
An amendment to this paper has been published and can be accessed via the original article. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 10, 2021 Category: Internal Medicine Authors: Jason Shourick, Maxime Wack and Anne-Sophie Jannot Tags: Correction Source Type: research

Validating online approaches for rare disease research using latent class mixture modeling
Rare disease patients are geographically dispersed, posing challenges to research. Some researchers have partnered with patient organizations and used web-based approaches to overcome geographic recruitment ba... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 10, 2021 Category: Internal Medicine Authors: Andrew A. Dwyer, Ziwei Zeng and Christopher S. Lee Tags: Research Source Type: research

Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network
Although clinician, researcher, and patient resources for matchmaking exist, finding similar patients remains an obstacle for rare disease diagnosis. The goals of this study were to develop and test the effect... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 10, 2021 Category: Internal Medicine Authors: Kimberly LeBlanc, Emily G. Kelley, Anna Nagy, Jorick Bater, Tala Berro, Molly A. McGuinness, Courtney Studwell and Matthew Might Tags: Research Source Type: research

A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation
Lymphatic malformations (LMs) are benign congenital malformations that stem from the abnormal development of the lymphatic vessels during early embryogenesis. Somatic PIK3CA gene mutations are conventional cause ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 8, 2021 Category: Internal Medicine Authors: Shengcai Wang, Wei Wang, Xuexi Zhang, Jingang Gui, Jie Zhang, Yongli Guo, Yuanhu Liu, Lin Han, Qiaoyin Liu, Yanzhen Li, Nian Sun, Zhiyong Liu, Jiangnan Du, Jun Tai and Xin Ni Tags: Research Source Type: research

The incidence of hydrocephalus among patients with and without spinal muscular atrophy (SMA): Results from a US electronic health records study
The incidence of hydrocephalus in the spinal muscular atrophy (SMA) population relative to the general population is currently unknown. Since the approval of nusinersen, an intrathecally administered drug for ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 7, 2021 Category: Internal Medicine Authors: Emma Viscidi, Nasha Wang, Maneesh Juneja, Ishir Bhan, Claudia Prada, Dayle James, Stacie Lallier, Corinne Makepeace, Karen Laird, Susan Eaton, Anne Dilley and Susan Hall Tags: Research Source Type: research

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and disease... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 7, 2021 Category: Internal Medicine Authors: Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Tim Schedl, Stephen C. Pak, John H. Postlethwait, Jimann Shin, Lilianna Solnica-Krezel, Hugo J. Bellen and Monte Westerfield Tags: Position statement Source Type: research

Clinical and laboratory prognosticators of atrophic papulosis (Degos disease): a systematic review
Degos disease is a rare vascular disorder with a cutaneous-limited form, benign atrophic papulosis (BAP), and a systemic variant, malignant atrophic papulosis (MAP). Despite the poor prognosis of MAP, no study... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 6, 2021 Category: Internal Medicine Authors: Justin D. Lu, Muskaan Sachdeva, Orli M. Silverberg, Lee Shapiro, David Croitoru and Rebecca Levy Tags: Research Source Type: research

ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable
The global spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection causing the ongoing coronavirus disease 2019 (COVID-19) pandemic has raised serious concern for patients with chronic... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 6, 2021 Category: Internal Medicine Authors: Thomas H. Brannagan III, Michaela Auer-Grumbach, John L. Berk, Chiara Briani, Vera Bril, Teresa Coelho, Thibaud Damy, Angela Dispenzieri, Brian M. Drachman, Nowell Fine, Hanna K. Gaggin, Morie Gertz, Julian D. Gillmore, Esther Gonzalez, Mazen Hanna, David Tags: Position statement Source Type: research

A qualitative investigation into the impact of hemophagocytic lymphohistiocytosis on children and their caregivers
Primary hemophagocytic lymphohistiocytosis (pHLH) is a rare and life-threatening disorder, which usually occurs during infancy or early childhood and is characterized by abnormal activation of the immune syste... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 6, 2021 Category: Internal Medicine Authors: Annabel Nixon, Elina Roddick, Karen Moore and Diane Wild Tags: Research Source Type: research

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
Inherited retinal degenerations (IRD) are rare genetic disorders with  > 300 known genetic loci, manifesting variably progressive visual dysfunction. IRDs were historically underserved due to lack of effective ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 5, 2021 Category: Internal Medicine Authors: Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O ’Byrne, Laura Brad Tags: Letter to the Editor Source Type: research

Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spa... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 5, 2021 Category: Internal Medicine Authors: M ónica Álvarez-Córdoba, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Joaquín J. Salas and José A. Sánchez-Alcázar Tags: Research Source Type: research

Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating disorders (EDs). We evaluated the effects of the COVI... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 5, 2021 Category: Internal Medicine Authors: Helena Mosbah, Muriel Coupaye, Flavien Jacques, Maith é Tauber, Karine Clément, Jean-Michel Oppert and Christine Poitou Tags: Research Source Type: research

Ocular manifestations of ectodermal dysplasia
The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 1, 2021 Category: Internal Medicine Authors: Daphna Landau Prat, William R. Katowitz, Alanna Strong and James A. Katowitz Tags: Research Source Type: research

How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system
About 30 million people in the EU and USA, respectively, suffer from a rare disease. Driven by European legislative requirements, national strategies for the improvement of care in rare diseases are being deve... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 1, 2021 Category: Internal Medicine Authors: Alexandra Berger, Anne-Kathrin Rustemeier, Jens G öbel, Dennis Kadioglu, Vanessa Britz, Katharina Schubert, Klaus Mohnike, Holger Storf and Thomas O. F. Wagner Tags: Research Source Type: research

Quality of life and its contributors among adults with late-onset Pompe disease in China
Pompe disease (PD) is a rare inherited disorder caused by the deficiency of acid- α glucosidase, which leads to the impairment of organ and tissue functions and causes disabilities. As the first national survey... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 1, 2021 Category: Internal Medicine Authors: Shanquan Chen, Jingxuan Wang, Jianfeng Zhu, Roger Yat-Nork Chung and Dong Dong Tags: Research Source Type: research

PH CARE COVID survey: an international patient survey on the care for pulmonary hypertension patients during the early phase of the COVID-19 pandemic
During the COVID-19 pandemic, most of the health care systems suspended their non-urgent activities. This included the cancellation of consultations for patients with rare diseases, such as severe pulmonary hy... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 1, 2021 Category: Internal Medicine Authors: Laurent Godinas, Keerthana Iyer, Gergely Meszaros, Rozenn Quarck, Pilar Escribano-Subias, Anton Vonk Noordegraaf, Pavel Jansa, Michele D ’Alto, Milan Luknar, Senka Milutinov Ilic, Catharina Belge, Olivier Sitbon, Abílio Reis, Stephan Rosenkranz, Joanna Tags: Research Source Type: research

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
Alteration of vitamin B12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and inter... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2021 Category: Internal Medicine Authors: Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Tags: Research Source Type: research

A systematic review of case reports of hepatic actinomycosis
Hepatic Actinomycosis (HA) is one of the infections that causes disorders in patients when diagnosed untimely and inappropriately. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2021 Category: Internal Medicine Authors: Zahra Chegini, Mojtaba Didehdar, Seidamir Pasha Tabaeian, Amin Khoshbayan and Aref Shariati Tags: Review Source Type: research

Medium-term outcomes after laparoscopic revision of laparoscopic Kasai portoenterostomy in patients with biliary atresia
To determine whether revision laparoscopic Kasai portoenterostomy (RLKPE) is a viable treatment option for patients with biliary atresia (BA) who had undergone initially successful laparoscopic Kasai portoente... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2021 Category: Internal Medicine Authors: Yi Ji, Xuepeng Zhang, Siyuan Chen, Yanan Li, Kaiying Yang, Jiangyuan Zhou and Zhicheng Xu Tags: Research Source Type: research

Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy
Limb –girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. Subtype 2A (LGMD2A) also known as “calpainopathy” is an inherited autosomal recessive gen... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2021 Category: Internal Medicine Authors: Silvio Quick, Max Winkler, Uwe Speiser, Karim Ibrahim, Jochen Sch äfer, Axel Linke, Kun Zhang, Marian Christoph and Felix M. Heidrich Tags: Research Source Type: research

The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective multicenter study
Tenosynovial giant cell tumor (TGCT) is a rare, locally aggressive neoplasm arising from the synovium of joints, bursae, and tendon sheaths affecting small and large joints. It represents a wide spectrum rangi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 29, 2021 Category: Internal Medicine Authors: Nicholas M. Bernthal, Geert Spierenburg, John H. Healey, Emanuela Palmerini, Sebastian Bauer, Hans Gelderblom, Eric L. Staals, Julio Lopez-Bastida, Eva-Maria Fronk, Xin Ye, Petra Laeis and Michiel A. J. van de Sande Tags: Research Source Type: research

Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease in human. We aimed to describe the genotype distribution in a large cohort of Chinese DMD patients and their delayed loss of ambulati... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 28, 2021 Category: Internal Medicine Authors: Shu Zhang, Dongdong Qin, Liwen Wu, Man Li, Lifang Song, Cuijie Wei, Chunling Lu, Xiaoli Zhang, Siqi Hong, Mingming Ma and Shiwen Wu Tags: Research Source Type: research

Optimizing language for effective communication of gene therapy concepts with hemophilia patients: a qualitative study
For communities of people living with hemophilia and other genetic conditions, gene therapy could represent a paradigm shift in treatment strategies. As investigational therapeutic modalities such as gene ther... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 28, 2021 Category: Internal Medicine Authors: Daniel P. Hart, Brian R. Branchford, Sarah Hendry, Robert Ledniczky, Robert F. Sidonio Jr., Claude N égrier, Michelle Kim, Michelle Rice, Matthew Minshall, Claire Arcé, Steve Prince, Maria Kelleher and Sharon Lee Tags: Research Source Type: research

Neonatal hyperinsulinism in transient and classical forms of tyrosinemia
The spectrum of disorders associated with hyperinsulinemic hypoglycemia (HHI) has vastly increased over the past 20 years with identification of molecular, metabolic and cellular pathways involved in the regul... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 28, 2021 Category: Internal Medicine Authors: Swathi Sethuram, Mark A. Sperling, Jasmine Gujral and Christopher J. Romero Tags: Research Source Type: research

A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study)
Patient access to orphan medicinal products (OMPs) is limited and varies between countries, reimbursement decisions on OMPs are complex, and there is a need for more transparent processes to know which criteri... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 26, 2021 Category: Internal Medicine Authors: Fernando de Andr és-Nogales, Encarnación Cruz, Miguel Ángel Calleja, Olga Delgado, Maria Queralt Gorgas, Jaime Espín, Jorge Mestre-Ferrándiz, Francesc Palau, Alba Ancochea, Rosabel Arce, Raquel Domínguez-Hernández and Miguel Ángel Casado Tags: Research Source Type: research

Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study
This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates. The overall impact of AHP on patients... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 26, 2021 Category: Internal Medicine Authors: Liz Gill, Sue Burrell, John Chamberlayne, Stephen Lombardelli, Jordanna Mora, Nicola Mason, Marieke Schurer, Madeline Merkel, Stephen Meninger and John J. Ko Tags: Research Source Type: research

Diagnostic delays in vasculitis and factors associated with time to diagnosis
This study sought to describe the diagnost... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 21, 2021 Category: Internal Medicine Authors: Antoine G. Sreih, Keri Cronin, Dianne G. Shaw, Kalen Young, Cristina Burroughs, Joyce Kullman, Kirthi Machireddy, Carol A. McAlear and Peter A. Merkel Tags: Research Source Type: research

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 21, 2021 Category: Internal Medicine Authors: Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid Tags: Research Source Type: research

The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases
In traditional clinical trial design, efficacy is typically assessed using a single primary endpoint in a randomized controlled trial to detect an expected treatment effect of a therapy in a narrowly selected ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2021 Category: Internal Medicine Authors: P. K. Tandon and Emil D. Kakkis Tags: Review Source Type: research

Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric case –control study
The tuberous sclerosis-associated neuropsychiatric disorders (TAND) have not previously been studied in China. We aimed to assess the psychiatric level of individuals with TAND using the Mini International Neu... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 17, 2021 Category: Internal Medicine Authors: Yifeng Ding, Ji Wang, Hao Zhou, Taoli Li, Shuizhen Zhou and Yi Wang Tags: Research Source Type: research

Classification of endonasal HHT lesions using digital microscopy
Recurrent spontaneous epistaxis is the most common clinical manifestation and the most debilitating symptom in hereditary haemorrhagic telangiectasia (HHT) patients. To this date, there exist only a classifica... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 17, 2021 Category: Internal Medicine Authors: F. Haubner, A. Schneider, H. Schinke, M. Bertlich, B. G. Weiss, M. Canis and F. Kashani Tags: Research Source Type: research

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant
ZFYVE19 (Zinc Finger FYVE-Type Containing 19) mutations have most recently been associated to a novel type of high gamma-glutamyl transpeptidase (GGT), non-syndromic, neonatal-onset intrahepatic chronic choles... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 14, 2021 Category: Internal Medicine Authors: Claudia Mandato, Maria Anna Siano, Lucia Nazzaro, Monica Gelzo, Paola Francalanci, Francesca Rizzo, Ylenia D ’Agostino, Manuela Morleo, Simona Brillante, Alessandro Weisz, Brunella Franco and Pietro Vajro Tags: Research Source Type: research

Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review
The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follo... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 14, 2021 Category: Internal Medicine Authors: C. Ejerskov, M. Raundahl, P. A. Gregersen and M. M. Handrup Tags: Review Source Type: research

Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study
Rare diseases may result in motor impairment, which in turn may affect parenthood. Our purpose was to evaluate perinatal outcomes, parenting needs, mother-infant interactions and infant development in a set of... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 13, 2021 Category: Internal Medicine Authors: Marc Dommergues, Drina Candilis, Ludivine Becerra, Edith Thoueille, David Cohen and Sylvie Viaux-Savelon Tags: Research Source Type: research

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)
Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 13, 2021 Category: Internal Medicine Authors: Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe and Sophie Molholm Tags: Research Source Type: research

Cost-of-illness studies in rare diseases: a scoping review
The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 13, 2021 Category: Internal Medicine Authors: Lidia Garc ía-Pérez, Renata Linertová, Cristina Valcárcel-Nazco, Manuel Posada, Inigo Gorostiza and Pedro Serrano-Aguilar Tags: Review Source Type: research

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intelle... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2021 Category: Internal Medicine Authors: Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia St öckler-Ipsiroglu, Carlos R. Ferreira and Clara D. M. van Karnebeek Tags: Review Source Type: research

Hypertrophy of unaffected cardiomyocytes correlates with severity of cardiomyopathy in female patients with Fabry disease
To investigate the contribution of unaffected cardiomyocytes in Fabry disease cardiomyopathy. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 10, 2021 Category: Internal Medicine Authors: Cristina Chimenti, Romina Verardo and Andrea Frustaci Tags: Letter to the Editor Source Type: research

Carrier frequency and incidence estimation of Smith –Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis
Smith –Lemli–Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive fa... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 9, 2021 Category: Internal Medicine Authors: Jong Eun Park, Taeheon Lee, Kyeongsu Ha and Chang-Seok Ki Tags: Research Source Type: research

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder
The triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal –ventral patterning defects during embryonic development. The majo... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 9, 2021 Category: Internal Medicine Authors: Gabriel C. Dworschak, Heiko M. Reutter and Michael Ludwig Tags: Review Source Type: research

Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation
With the advancements in genetics and genomics in the twenty-first century, genetic services have become an integral part of medical practices in high-income and upper-middle-income countries. However, people ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 9, 2021 Category: Internal Medicine Authors: Mohammad Jakir Hosen, Saeed Anwar, Jarin Taslem Mourosi, Sourav Chakraborty, Md. Faruque Miah and Olivier M. Vanakker Tags: Review Source Type: research

eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)
The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 8, 2021 Category: Internal Medicine Authors: Alessia Paglialonga, Raffaella Gaetano, Leema Robert, Marine Hurard, Luisa Maria Botella, Natasha Barr, Guillaume Jondeau and Alessandro Pini Tags: Position statement Source Type: research

Evaluating strategies to manage and endure challenging behaviors in mucopolysaccharidoses
The mucopolysaccharidoses (MPS) are a group of rare, genetic, lysosomal storage disorders characterized by progressive, multisystemic accumulation of glycosaminoglycans. Individuals with severe MPS often prese... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 8, 2021 Category: Internal Medicine Authors: Nathan Grant Tags: Letter to the Editor Source Type: research