Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a proxi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 16, 2019 Category: Internal Medicine Authors: Tobias Geis, Tanja R ödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute H Tags: Research Source Type: research

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect
Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births. Although TCOF1, POLR1D, and POLR1C, have been identified as the pa... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 15, 2019 Category: Internal Medicine Authors: Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang and Xiaowei Chen Tags: Research Source Type: research

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA). (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 12, 2019 Category: Internal Medicine Authors: Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender and William R. Lenderking Tags: Research Source Type: research

Share and protect our health data: an evidence based approach to rare disease patients ’ perspectives on data sharing and data protection - quantitative survey and recommendations
The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 12, 2019 Category: Internal Medicine Authors: Sandra Courbier, Rebecca Dimond and Virginie Bros-Facer Tags: Research Source Type: research

RD-RAP: beyond rare disease patient registries, devising a comprehensive data and analytic framework
Within the 21 APEC economies alone, there are an estimated 200 million individuals living with a rare disease. As such, health data on these individuals, and hence patient registries, are vital. However, regis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 12, 2019 Category: Internal Medicine Authors: Matthew I. Bellgard, Tom Snelling and James M. McGree Tags: Position statement Source Type: research

Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes
Although metreleptin replacement therapy was shown to improve metabolic alterations in lipodystrophic syndromes, patients ’ adherence and satisfaction with treatment have never been evaluated. The 20 patients w... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 12, 2019 Category: Internal Medicine Authors: Camille Vatier, Dina Kalbasi, Marie-Christine Vantyghem, Olivier Lascols, Isabelle J éru, Anne Daguenel, Jean-François Gautier, Marion Buyse and Corinne Vigouroux Tags: Research Source Type: research

Quantitative analysis of a rare disease network ’s international contact database and E-repository provides insights into biobanking in the electronic consent era
Castleman disease (CD) describes a group of rare and poorly understood lymphoproliferative disorders that include unicentric CD (UCD), Human Herpes Virus-8 (HHV8)-associated multicentric CD (HHV8  + MCD), and H... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 11, 2019 Category: Internal Medicine Authors: Alexander Suarez, Curran Reilly and David C. Fajgenbaum Tags: Research Source Type: research

Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia
According to rough estimates, there are approximately 150,000 rare disease patients in Slovenia (out of a total population of 2 million). Despite the absence of accurate epidemiological data on their status, t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 9, 2019 Category: Internal Medicine Authors: Dalibor Stanimirovic, Eva Murko, Tadej Battelino and Urh Groselj Tags: Research Source Type: research

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker
Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations,... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 8, 2019 Category: Internal Medicine Authors: Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper and Pablo Garcia-Pavia Tags: Letter to the Editor Source Type: research

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review
Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal skin pigmentation, cardiomy... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 8, 2019 Category: Internal Medicine Authors: Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang and Xiaoping Chen Tags: Review Source Type: research

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
Sanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic sy... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 8, 2019 Category: Internal Medicine Authors: Elsa Shapiro, Charles Marques Louren ço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill and Suresh Vijayaraghavan Tags: Research Source Type: research

Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER
The European Reference Network for rare liver diseases (ERN RARE-LIVER) is a Europe-wide network of paediatric and adult hepatologists from expert centres in close collaboration with patient advocates from the... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 8, 2019 Category: Internal Medicine Authors: Lucas H. P. Bernts, David E. J. Jones, Marleen M. Kaatee, Ansgar W. Lohse, Christoph Schramm, Ekkehard Sturm and Joost P. H. Drenth Tags: Position statement Source Type: research

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations
The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 5, 2019 Category: Internal Medicine Authors: Giulio Calcagni, Maria Cristina Digilio, Bruno Marino and Marco Tartaglia Tags: Letter to the Editor Source Type: research

Genomic imbalances defining novel intellectual disability associated loci
High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contr... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 5, 2019 Category: Internal Medicine Authors: F átima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros & hellip; Tags: Research Source Type: research

Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences
Kaposiform lymphangiomatosis (KLA) and kaposiform hemangioendothelioma (KHE) are rare and aggressive vascular disorders. The aim of this study was to examine the clinical features and prognosis of KLA and KHE ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 5, 2019 Category: Internal Medicine Authors: Yi Ji, Siyuan Chen, Suhua Peng, Chunchao Xia and Li Li Tags: Research Source Type: research

Evaluation of neurofibromatosis type 1 progression using a nationwide registry of patients who submitted claims for medical expense subsidies in Japan between 2008 and 2012
No study to date has followed disease progression in patients with neurofibromatosis type 1 (NF1), including the incidence of various manifestations, using a national registry. Here we examined the state of NF... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 5, 2019 Category: Internal Medicine Authors: Takashi Yamauchi, Machi Suka, Chikako Nishigori and Hiroyuki Yanagisawa Tags: Research Source Type: research

Social and demographic characteristics of a Polish cohort with Wilson disease and the impact of treatment persistence
Wilson disease (WD) is a genetic disorder involving impaired copper metabolism, which presents with hepatic, neurological, and/or psychiatric manifestations. WD requires lifelong pharmacotherapy and treatment ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 5, 2019 Category: Internal Medicine Authors: Wojciech Maselbas, Tomasz Litwin and Anna Czlonkowska Tags: Research Source Type: research

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 4, 2019 Category: Internal Medicine Authors: Ross Summer, Rachana Krishna, DeLeila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico and Freddy Romero Tags: Research Source Type: research

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review
Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptomatology depending on the age of onset. The diagnosis of NP-C is challenging due to heterogeneous nonspecific clinica... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 2, 2019 Category: Internal Medicine Authors: Mercedes Pineda, Katar ína Juríčková, Parvaneh Karimzadeh, Miriam Kolniková, Věra Malinová, Juan Torres and Stefan A. Kolb Tags: Research Source Type: research

Rare diseases in China: analysis of 2014 –2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals
The objective of this study was to explore fundamental data for a list of rare disease... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 1, 2019 Category: Internal Medicine Authors: Xinmiao Shi, Hui Liu, Siyan Zhan, Zhaoxia Wang, Lin Wang, Chongya Dong, Yanfang Wang, Chen Yao, Jie Ding and Yan Li Tags: Research Source Type: research

The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust
Given the inherent complexity of rare paediatric diseases and the sensitive emotional context of the situations they create (due to the patients ’ age and the tense uncertainty surrounding the progression of th... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 28, 2019 Category: Internal Medicine Authors: Beni G ómez-Zúñiga, Rafael Pulido Moyano, Modesta Pousada Fernández, Alicia García Oliva and Manuel Armayones Ruiz Tags: Research Source Type: research

Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?
Familial digital arthropathy-brachydactyly (FDAB) and Thiemann disease are non-inflammatory digital arthropathies with many phenotypic similarities. Thirty-three cases of Thiemann disease have been described s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 27, 2019 Category: Internal Medicine Authors: Nadirah Damseh, Jennifer Stimec, Alan O ’Brien, Christian Marshall, Ravi Savarirayan, Ali Jawad, Ronald Laxer and Peter Kannu Tags: Review Source Type: research

Implementing reflective multicriteria decision analysis (MCDA) to assess orphan drugs value in the Catalan Health Service (CatSalut)
Orphan medicines show some characteristics that hinder the evaluation of their clinical added value. The often low level of evidence available for orphan drugs, together with a high budget impact and an increm... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 27, 2019 Category: Internal Medicine Authors: Laura Guarga, Xavier Badia, Merc è Obach, Manel Fontanet, Alba Prat, Atonio Vallano, Josep Torrent and Caridad Pontes Tags: Research Source Type: research

The German National Action League for people with rare diseases: translating the three tiers center system into active co-operation, a one center experience
In 2009 the European Commission called for National action plans (NAP) to improve the care for persons with rare diseases. Germany set up a NAP in 2013 suggesting a three-tiered structure of co-operating cente... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 27, 2019 Category: Internal Medicine Authors: U. Pl öckinger and A. Ziagaki Tags: Position statement Source Type: research

Using a stated preference discrete choice experiment to assess societal value from the perspective of patients with rare diseases in Italy
We present the res... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 26, 2019 Category: Internal Medicine Authors: Julio L ópez-Bastida, Juan Manuel Ramos-Goñi, Isaac Aranda-Reneo, Domenica Taruscio, Armando Magrelli and Panos Kanavos Tags: Research Source Type: research

The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan
Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 26, 2019 Category: Internal Medicine Authors: Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Megumi Mori, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Hidefumi Ito, Itsuro Higuchi, Akihiro Hashiguchi, Hiroyuki Nodera, Ryuji Kaji & h Tags: Research Source Type: research

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany
Estimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care provider-driven data collections are held with different or... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 24, 2019 Category: Internal Medicine Authors: Kirsten K önig, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible and Janbernd Kirschner Tags: Research Source Type: research

Genome sequencing and implications for rare disorders
The practice of genomic medicine stands to revolutionize our approach to medical care, and to realize this goal will require discovery of the relationship between rare variation at each of the ~  20,000 protein... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 24, 2019 Category: Internal Medicine Authors: Jennifer E. Posey Tags: Review Source Type: research

Schnitzler ’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease
Schnitzler ’s syndrome is an auto-inflammatory disorder which is characterized by two mandatory features: an urticarial rash and a monoclonal gammopathy. Although the pathophysiology of this syndrome is not yet... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 22, 2019 Category: Internal Medicine Authors: FS van Leersum, J Potjewijd, M van Geel, PM Steijlen and M Vreeburg Tags: Letter to the Editor Source Type: research

Treatment with metformin in twelve patients with Lafora disease
Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a wel... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 21, 2019 Category: Internal Medicine Authors: Francesca Bisulli, Lorenzo Muccioli, Giuseppe d ’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci and Paolo Tinuper Tags: Letter to the Editor Source Type: research

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 21, 2019 Category: Internal Medicine Authors: Sonia Emperador, Ester L ópez-Gallardo, Carmen Hernández-Ainsa, Mouna Habbane, Julio Montoya, M. Pilar Bayona-Bafaluy and Eduardo Ruiz-Pesini Tags: Research Source Type: research

Treatment of Satoyoshi syndrome: a systematic review
Satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an autoimmune basis is presumed. Its main symptoms are: painful muscle spasms, diarrhea, alopecia and skeletal abnormalities. Cl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 19, 2019 Category: Internal Medicine Authors: Juli án Solís-García del Pozo, Carlos de Cabo and Javier Solera Tags: Review Source Type: research

Ovarian primary primitive neuroectodermal tumor: a review of cases at PUMCH and in the published literature
The pathological characteristics, treatment strategies and prognosis of ovarian primary primitive neuroectodermal tumor (PNET) were unclear due to the rarity of PNET. All cases treated at Peking Union Medical ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 19, 2019 Category: Internal Medicine Authors: Xiaopei Chao, Yalan Bi and Lei Li Tags: Research Source Type: research

Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry
NGLY1 deficiency is a rare autosomal recessive disorder caused by loss in enzymatic function of NGLY1, a peptide N-glycanase that has been shown to play a role in endoplasmic reticulum associated degradation (ERA... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 19, 2019 Category: Internal Medicine Authors: Eli M. Cahan and Steven L. Frick Tags: Research Source Type: research

Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal development
Individuals diagnosed with a rare genetic disease that affects skeletal development often have physical limitations and orofacial problems that exert an impact on oral health. The aim of the present study was ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 18, 2019 Category: Internal Medicine Authors: Heloisa Vieira Prado, Nat ália Cristina Ruy Carneiro, Matheus França Perazzo, Mauro Henrique Nogueira Guimarães de Abreu, Carolina de Castro Martins and Ana Cristina Borges-Oliveira Tags: Research Source Type: research

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, kerata... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 14, 2019 Category: Internal Medicine Authors: Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob and Lock Hock Ngu Tags: Research Source Type: research

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome
Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of g... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 14, 2019 Category: Internal Medicine Authors: Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang and Yiping Shen Tags: Research Source Type: research

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosom... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 13, 2019 Category: Internal Medicine Authors: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, A Tags: Research Source Type: research

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review
Proteoglycans are large and structurally complex macromolecules which can be found in abundancy in the extracellular matrix and on the surface of all animal cells. Mutations in the genes encoding the enzymes r... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 13, 2019 Category: Internal Medicine Authors: Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens and Fransiska Malfait Tags: Research Source Type: research

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues an... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 13, 2019 Category: Internal Medicine Authors: Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arunde, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stant Tags: Position statement Source Type: research

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulfate. Cardiac abnormalities have been ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 13, 2019 Category: Internal Medicine Authors: Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang and Shuan-Pei Lin Tags: Research Source Type: research

The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies
Lymphatic anomalies (LAs) include several disorders in which abnormal lymphatic tissue invades the neck, chest, and various organs. Progressive cases may result in lethal outcomes and have proven difficult to ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 13, 2019 Category: Internal Medicine Authors: Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Ryuta Asada, Hiroya Hashimoto and Toshiyuki Fukao Tags: Research Source Type: research

Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines
Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International and funded by DEBRA Norway, this evidence-bases guideline pro... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 11, 2019 Category: Internal Medicine Authors: K. Martin, S. Geuens, J. K. Asche, R. Bodan, F. Browne, A. Downe, N. Garc ía García, G. Jaega, B. Kennedy, P. J. Mauritz, F. Pérez, K. Soon, V. Zmazek and K. M. Mayre-Chilton Tags: Review Source Type: research

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder
Triglyceride deposit cardiomyovasculopathy (TGCV) is a phenotype primarily reported in patients carrying genetic mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) which releases long chain fatty aci... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 11, 2019 Category: Internal Medicine Authors: Ming Li, Ken-ichi Hirano, Yoshihiko Ikeda, Masahiro Higashi, Chikako Hashimoto, Bo Zhang, Junji Kozawa, Koichiro Sugimura, Hideyuki Miyauchi, Akira Suzuki, Yasuhiro Hara, Atsuko Takagi, Yasuyuki Ikeda, Kazuhiro Kobayashi, Yoshiaki Futsukaichi, Nobuhiro Za Tags: Letter to the Editor Source Type: research

Satellite cell content in Huntington ’s disease patients in response to endurance training
Skeletal muscle wasting is a hallmark of Huntington ’s disease (HD). However, data on myocellular characteristics and myofiber remodeling in HD patients are scarce. We aimed at gaining insights into myocellular... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 11, 2019 Category: Internal Medicine Authors: Sandro Manuel Mueller, Violeta Mihaylova, Sebastian Frese, Jens A. Petersen, Maria Ligon-Auer, David Aguayo, Martin Fl ück, Hans H. Jung and Marco Toigo Tags: Letter to the Editor Source Type: research

Phenotypic variation between siblings with Metachromatic Leukodystrophy
Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 11, 2019 Category: Internal Medicine Authors: Saskia Elg ün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck-Wödl, Jennifer Just, Ludger Schöls, Nicole Wolf, Ingeborg Krägeloh-Mann and Samuel Groeschel Tags: Research Source Type: research

Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases
Congenital tuberculosis is rare and carries a high mortality rate. Our objective was to summarize the current experience of the diagnosis and treatment of patients with congenital tuberculosis. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 10, 2019 Category: Internal Medicine Authors: Chaofeng Li, Lili Liu and Yuhong Tao Tags: Research Source Type: research

“Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease
Patient and public involvement for co-creation is increasingly recognized as a valuable strategy to develop healthcare research targeting patients ’ real needs. However, its practical implementation is not as a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 7, 2019 Category: Internal Medicine Authors: Anna Ambrosini, Ros Quinlivan, Valeria A. Sansone, Ingeborg Meijer, Guus Schrijvers, Aad Tibben, George Padberg, Maarten de Wit, Ellen Sterrenburg, Alexandre Mejat, Alexandra Breukel, Michal Rataj, Hanns Lochm üller and Raffaella Willmann Tags: Research Source Type: research

Factors associated with positive and negative recommendations for cancer and non-cancer drugs for rare diseases in Canada
In Canada, reimbursement recommendations on drugs for common and rare diseases are overseen by the Canadian Agency for Drugs and Technologies in Health (CADTH) and made through the pan-Canadian Oncology Drug R... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 7, 2019 Category: Internal Medicine Authors: Fernanda Naomi Inagaki Nagase, Tania Stafinski, Jian Sun, Gian Jhangri and Devidas Menon Tags: Research Source Type: research

Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1
Eliglustat is a first-line oral treatment for adults with Gaucher disease type 1 who have an extensive, intermediate or poor CYP2D6 metabolizer phenotype (> 90% of patients). Whereas enzyme replacement therapy... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 7, 2019 Category: Internal Medicine Authors: M. Judith Peterschmitt, Selena Freisens, Lisa H. Underhill, Meredith C. Foster, Grace Lewis and Sebastiaan J. M. Gaemers Tags: Research Source Type: research