Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients
The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. T... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 22, 2020 Category: Internal Medicine Authors: Hana Pavlu-Pereira, Maria Jo ão Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, I Tags: Research Source Type: research

Correlation of clinical signs and symptoms of Beh çet’s disease with mean platelet volume (MPV) and red cell distribution width (RDW)
A strong correlation was previously found between mean platelet volume (MPV), red blood cell distribution width (RDW), and the severity of signs and symptoms in patients suffering from inflammatory and autoimm... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 21, 2020 Category: Internal Medicine Authors: Maryam Masoumi, Soraya Shadmanfar, Fereydoun Davatchi, Farhad Shahram, Massoomeh Akhlagi, Tahereh Faezi, Hoda Kavosi, Soroush Moradi and Javad Balasi Tags: Research Source Type: research

Dietary iron intake and anemia: food frequency questionnaire in patients with hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular disease characterized by a heterogeneous clinical presentation and prognosis. Dietary evaluation is relevant in HHT patients to... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 20, 2020 Category: Internal Medicine Authors: Federica Cavalcoli, Alberto Gandini, Irene Aglaia Matelloni, Francesca Catalano, Saverio Alicante, Guido Manfredi, Gianfranco Brambilla, Fernanda Menozzi, Federica Perolini, Egon Costi, Roberto Bert è and Elisabetta Buscarini Tags: Research Source Type: research

English version of the self-administered Fabry Pain Questionnaire for adult patients
Pain is an early symptom of Fabry disease (FD) and is characterized by a unique phenotype with mainly episodic acral and triggerable burning pain. Recently, we designed and validated the first pain questionnai... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 20, 2020 Category: Internal Medicine Authors: Ana Jovanovic, Philipp Klassen, Peter Heuschmann, Claudia Sommer, Mark Roberts and Nurcan Üçeyler Tags: Research Source Type: research

Small molecule drug development for rare genodermatoses – evaluation of the current status in epidermolysis bullosa
Hereditary epidermolysis bullosa (EB) comprises a heterogeneous group of rare genodermatoses, which are caused by mutations in genes involved in the maintenance of the structural and functional integrity of de... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 19, 2020 Category: Internal Medicine Authors: Verena Wally, Manuela Reisenberger, Sophie Kitzm üller and Martin Laimer Tags: Review Source Type: research

Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers
Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring l... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 19, 2020 Category: Internal Medicine Authors: Sarah Berrocoso, Imanol Amayra, Esther L ázaro, Oscar Martínez, Juan Francisco López-Paz, Maitane García, Manuel Pérez, Mohammad Al-Rashaida, Alicia Aurora Rodríguez, Paula Maria Luna, Paula Pérez-Núñez, Raquel Blanco and Julián Nevado Tags: Research Source Type: research

The adult phenotype of Schaaf-Yang syndrome
MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 19, 2020 Category: Internal Medicine Authors: Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-W ödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf and Alma Kuechler Tags: Research Source Type: research

European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG): a feasibility study
In the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 16, 2020 Category: Internal Medicine Authors: Ana Requena-M éndez, Zeno Bisoffi, Joan-Lluis Vives-Corrons, Joaquim Gascon and Antoni Plasència Tags: Position statement Source Type: research

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence
Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction. Several different gene mut... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 15, 2020 Category: Internal Medicine Authors: Konrad Bork, Thomas Machnig, Karin Wulff, Guenther Witzke, Subhransu Prusty and Jochen Hardt Tags: Research Source Type: research

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement
Marfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS is caused by dominant negative (DN) and haploinsufficient (HI) mutations o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 15, 2020 Category: Internal Medicine Authors: Roland Stengl, Andr ás Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs and Kálmán Benke Tags: Research Source Type: research

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these dis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 15, 2020 Category: Internal Medicine Authors: Tom às Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. S Tags: Research Source Type: research

Rosai –Dorfman disease mimicking IgG4-related diseases: a single-center experience in China
Rosai –Dorfman disease (RDD) and IgG4-related (IgG4-RD) disease are both rare diseases, but in some cases, RDD mimics IgG4-RD clinically and pathologically. RDD mimicking IgG4-RDs (RDD mimic IgG4-RD), referring... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 14, 2020 Category: Internal Medicine Authors: Li Wang, Wei Li, Shangzhu Zhang, Linyi Peng, Min Shen, Shuoning Song, Wei Zhang, Xinxin Cao, Ruie Feng and Wen Zhang Tags: Research Source Type: research

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature
Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 14, 2020 Category: Internal Medicine Authors: Zahra Beyzaei, Bita Geramizadeh and Sara Karimzadeh Tags: Review Source Type: research

Patient-reported outcomes on familial amyloid polyneuropathy (FAP)
Transthyretin familial amyloid polyneuropathy (ATTR-FAP) is a rare autosomal dominant inherited disease affecting multiple organ systems. ATTR-FAP patients ’ experiences have rarely been documented. The aim of ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 14, 2020 Category: Internal Medicine Authors: Fabian J. Bolte, Christel Langenstroer, Frauke Friebel, Anna H üsing-Kabar, Martin Dugas and Hartmut H. Schmidt Tags: Research Source Type: research

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain insights into the genetics... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 14, 2020 Category: Internal Medicine Authors: Wen Tian, Yingzhao Huang, Liying Sun, Yang Guo, Sen Zhao, Mao Lin, Xiying Dong, Wenyao Zhong, Yuehan Yin, Zefu Chen, Nan Zhang, Yuanqiang Zhang, Lianlei Wang, Jiachen Lin, Zihui Yan, Xinzhuang Yang & hellip; Tags: Research Source Type: research

Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease
This study is the first report of patient-r... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 13, 2020 Category: Internal Medicine Authors: Tama Dinur, Majdolen Istaiti, Dafna Frydman, Michal Becker-Cohen, Jeff Szer, Ari Zimran and Shoshana Revel-Vilk Tags: Research Source Type: research

The urgent need to empower rare disease organizations in China: an interview-based study
Each rare disease only affects a small number of population. However, a total of 7000 rare diseases may affect 10% of the population. Due to the severity and lack of rare disease awareness, rare disease repres... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 12, 2020 Category: Internal Medicine Authors: Xuefeng Li, Zijuan Lu, Jianyong Zhang, Xiangyu Zhang, Shu Zhang, Jincheng Zhou, Bingzhe Li and Li Ou Tags: Research Source Type: research

Early start of growth hormone is associated with positive effects on auxology and metabolism in Prader-Willi-syndrome
Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze pos... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 12, 2020 Category: Internal Medicine Authors: Lucy Magill, Constanze Laemmer, Joachim Woelfle, Rolf Fimmers and Bettina Gohlke Tags: Research Source Type: research

Type 1 tyrosinemia in Finland: a nationwide study
Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure. Also, the predictors for ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 12, 2020 Category: Internal Medicine Authors: Linnea Äärelä, Pauliina Hiltunen, Tea Soini, Nina Vuorela, Heini Huhtala, Pasi I. Nevalainen, Markku Heikinheimo, Laura Kivelä and Kalle Kurppa Tags: Research Source Type: research

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature
N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and..... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 9, 2020 Category: Internal Medicine Authors: Aileen Kenneson and Rani H. Singh Tags: Review Source Type: research

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders. Factor XII (FXII), the first element of th... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 9, 2020 Category: Internal Medicine Authors: Raquel L ópez-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley and Javier Corral Tags: Research Source Type: research

Health technology assessment and reimbursement policy for oncology orphan drugs in Central and Eastern Europe
The reimbursement of orphan drugs (OD) is an increasingly important for country policymakers, and still insufficiently understood, especially in Central and Eastern Europe. The aim of this research was to prov... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 8, 2020 Category: Internal Medicine Authors: Krzysztof Piotr Malinowski, Pawe ł Kawalec, Wojciech Trąbka, Christoph Sowada, Guenka Petrova, Manoela Manova, Alexandra Savova, Pero Draganić, Juraj Slabý, Agnes Männik, Kristóf Márky, Zinta Rugaja, Jolanta Gulbinovic, Tomas Tesar and Marian Sorin Tags: Research Source Type: research

Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis
The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 8, 2020 Category: Internal Medicine Authors: Hedvig Paulsson Rokke, Nima Sadat Gousheh, Per Westermark, Ole B. Suhr, Intissar Anan, Elisabet Ihse, Bj örn Pilebro and Jonas Wixner Tags: Research Source Type: research

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
Propionic acidemia (PA) is a serious metabolic disorder, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability and validity of a biochemical strategy in the prenatal... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 7, 2020 Category: Internal Medicine Authors: Mengyao Dai, Bing Xiao, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Hong Zhu, Lei Wang, Lili Liang, Xia Zhan, Wenjun Ji, Yu Wang, Yongguo Yu, Xuefan Gu and Lianshu Han Tags: Research Source Type: research

Challenging behavior in mucopolysaccharidoses types I –III and day-to-day coping strategies: a cross sectional explorative study
Challenging behavior represents a core symptom in neuropathological mucopolysaccharidoses (MPS) and puts major strain on affected families. Although multimodal approaches including behavioral strategies to tre... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 2, 2020 Category: Internal Medicine Authors: Frederik Hoffmann, Susanne Hoffmann, Kevin Kunzmann and Markus Ries Tags: Review Source Type: research

Safety of vaccines administration in hereditary fructose intolerance
Patients with hereditary fructose intolerance need to follow a life-long fructose dietary and drug restriction to prevent symptoms of intoxication. Concerns about vaccines administration have been manifested o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 1, 2020 Category: Internal Medicine Authors: Arianna Maiorana, Antonella Sabia, Tiziana Corsetti and Carlo Dionisi-Vici Tags: Letter to the Editor Source Type: research

Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up
The objectives of this study were twofold: (1) to analyze the clinical c... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 1, 2020 Category: Internal Medicine Authors: Yunfei Li, Xin Yuan, Ruimin Chen, Xiangquan Lin, Huakun Shangguan, Xiaohong Yang and Ying Zhang Tags: Research Source Type: research

Phenotypic diversity in an international Cure VCP Disease registry
Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy, Paget ’s disease of bone, and frontotemporal dementia also termed multisystem proteinopathy (MSP). The g... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2020 Category: Internal Medicine Authors: Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert, Allison Peck, Nathan Peck, Nicholas E. Johnson, Jeffrey M. Statland and Conrad C. Weihl Tags: Research Source Type: research

The Amyloidosis Forum: a public private partnership to advance drug development in AL amyloidosis
Immunoglobulin light chain (AL) amyloidosis is a rare, multi-systemic disorder characterized by two disease processes: an underlying plasma cell dyscrasia that provides the source of pathologic light chains, a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2020 Category: Internal Medicine Authors: Isabelle Lousada Tags: Review Source Type: research

Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat
Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. Symptoms include hepatosplenomegaly, vertical s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2020 Category: Internal Medicine Authors: A. Imanishi, T. Kawazoe, Y. Hamada, T. Kumagai, K. Tsutsui, N. Sakai, K. Eto, A. Noguchi, T. Shimizu, T. Takahashi, G. Han, K. Mishima, T. Kanbayashi and H. Kondo Tags: Research Source Type: research

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness dat... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2020 Category: Internal Medicine Authors: Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska and Nicole M. Muschol Tags: Research Source Type: research

Clinical significance of serum anti-granulocyte –macrophage colony-stimulating factor autoantibodies in patients with sarcoidosis and hypersensitivity pneumonitis
Anti-granulocyte –macrophage colony-stimulating factor autoantibody (GMAb) has been recognized as a diagnostic biomarker for autoimmune pulmonary alveolar proteinosis (aPAP). The aims of this study were to know... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2020 Category: Internal Medicine Authors: Kanako Katayama, Masaki Hirose, Toru Arai, Kazuyoshi Hatsuda, Kazunobu Tachibana, Reiko Sugawara, Chikatoshi Sugimoto, Takahiko Kasai, Masanori Akira and Yoshikazu Inoue Tags: Research Source Type: research

Prevalence, mortality and healthcare economic burden of tuberous sclerosis in Hong Kong: a population-based retrospective cohort study (1995 –2018)
We aim to elucidate the disease impact by accounting the prevalence, survival rate, genetics, mTOR inhibitor use and direct costs of tuberous sclerosis complex (TSC) in our local setting. TSC patients with doc... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 25, 2020 Category: Internal Medicine Authors: William Ching-Yuen Chu, Lorraine Lok-Wing Chiang, Dorothy Chi-Ching Chan, Wilfred Hing-Sang Wong and Godfrey Chi-Fung Chan Tags: Research Source Type: research

The forgotten people with thalassemia in the time of COVID-19: South Asian perspective
South Asia is the hotspot of beta-thalassemia, with an estimated 200,000 patients whose lives depend on regular blood transfusion. Due to COVID-19 pandemic, many countries have adopted unprecedented lockdown t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 25, 2020 Category: Internal Medicine Authors: Mohammad Sorowar Hossain, Enayetur Raheem and Mahbubul H. Siddiqee Tags: Letter to the Editor Source Type: research

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe
Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 25, 2020 Category: Internal Medicine Authors: Tracy Brock Lowe, Jane DeLuca and Georgianne L. Arnold Tags: Review Source Type: research

Diagnosis of Rare Diseases: a scoping review of clinical decision support systems
Rare Diseases (RDs), which are defined as diseases affecting no more than 5 out of 10,000 people, are often severe, chronic and life-threatening. A main problem is the delay in diagnosing RDs. Clinical decisio... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 24, 2020 Category: Internal Medicine Authors: Jannik Schaaf, Martin Sedlmayr, Johanna Schaefer and Holger Storf Tags: Review Source Type: research

Medical costs of Alpha-1 antitrypsin deficiency-associated COPD in the United States
The objective of this study was to isolate t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 23, 2020 Category: Internal Medicine Authors: Jan Sieluk, Julia F. Slejko, Henry Silverman, Eleanor Perfetto and C. Daniel Mullins Tags: Research Source Type: research

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency
Previous work has identified age-related negative correlations for γ-hydroxybutyric acid (GHB) and γ-aminobutyric acid (GABA) in plasma of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD).... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 23, 2020 Category: Internal Medicine Authors: Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet and K. Michael Gibson Tags: Research Source Type: research

Parkinson ’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?
How to address the counseling of lifetime risk of developing Parkinson ’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 23, 2020 Category: Internal Medicine Authors: Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio and Generoso Andria Tags: Position statement Source Type: research

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a le... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2020 Category: Internal Medicine Authors: Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, M élanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender and Gaëtan Lesca Tags: Research Source Type: research

Benefits of pulmonary rehabilitation in patients with advanced lymphangioleiomyomatosis (LAM) compared with COPD – a retrospective analysis
Lymphangioleiomyomatosis (LAM) is a rare and progressive cystic lung disease with limited therapeutic options. We retrospectively analyzed the effects of a comprehensive 4-week inpatient pulmonary rehabilitati... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2020 Category: Internal Medicine Authors: Rainer Gloeckl, Christoph Nell, Tessa Schneeberger, Inga Jarosch, Martina Boensch, Henrik Watz, Hubert Wirtz, Tobias Welte, Klaus Kenn and Andreas Rembert Koczulla Tags: Letter to the Editor Source Type: research

The natural course of hereditary angioedema in a Chinese cohort
Hereditary angioedema (HAE) is a rare disease with potential life-threatening risks. To study the natural course of HAE under therapy-free conditions throughout patient life is essential for practitioners and ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2020 Category: Internal Medicine Authors: Yang Cao, Shuang Liu and Yuxiang Zhi Tags: Research Source Type: research

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mann... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2020 Category: Internal Medicine Authors: Roman Taday, Marianne Gr üneberg, Ingrid DuChesne, Janine Reunert and Thorsten Marquardt Tags: Research Source Type: research

Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement
Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) can lead to severe ophthalmologic sequelae. The main risk factor is the severity of the initial ocular involvement. There are no recommendati... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 22, 2020 Category: Internal Medicine Authors: D. Thorel, S. Ingen-Housz-Oro, G. Royer, A. Delcampe, N. Bellon, C. Bodemer, A. Welfringer-Morin, D. Bremond-Gignac, M. P. Robert, M. Tauber, F. Malecaze, O. Dereure, V. Daien, A. Colin, C. Bernier, C. Couret & hellip; Tags: Position statement Source Type: research

Guidelines for diagnosis and management of congenital central hypoventilation syndrome
Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunctio... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 21, 2020 Category: Internal Medicine Authors: Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnido Tags: Review Source Type: research

Consensus clinical management guidelines for Alstr öm syndrome
Alstr öm Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease char... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 21, 2020 Category: Internal Medicine Authors: Natascia Tahani, Pietro Maffei, H élène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Tags: Position statement Source Type: research

Development of a patient-reported outcome questionnaire for aplastic anemia and paroxysmal nocturnal hemoglobinuria (PRO-AA/PNH)
The introduction of new therapy modalities has significantly improved the outcome of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) patients. However, relatively little is known about the e... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 17, 2020 Category: Internal Medicine Authors: Kimmo Weisshaar, Hannah Ewald, J örg Halter, Sabine Gerull, Sandra Schönfeld, Yuliya Senft, Maria Martinez, Anne Leuppi-Taegtmeyer, Nina Khanna, Birgit Maier, Antonio Risitano, Regis Peffault de Latour, Andre Tichelli, Jakob Passweg and Beatrice Drexler Tags: Research Source Type: research

Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study
Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 16, 2020 Category: Internal Medicine Authors: Karamjot Sidhu, Bilal Ali, Lauren A. Burt, Steven K. Boyd and Aneal Khan Tags: Research Source Type: research

Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis
We previously reported a novel clinically distinguishable subtype of congenital scoliosis (CS), namely, TBX6-associated congenital scoliosis (TACS). We further developed the TBX6-associated CS risk score (TACScor... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 15, 2020 Category: Internal Medicine Authors: Zefu Chen, Zihui Yan, Chenxi Yu, Jiaqi Liu, Yanbin Zhang, Sen Zhao, Jiachen Lin, Yuanqiang Zhang, Lianlei Wang, Mao Lin, Yingzhao Huang, Xiaoxin Li, Yuchen Niu, Shengru Wang, Zhihong Wu, Guixing Qiu & hellip; Tags: Research Source Type: research

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients
Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 14, 2020 Category: Internal Medicine Authors: J. J. A. van den Dorpel, E. Poelman, L. Harlaar, H. A. van Kooten, L. J. van der Giessen, P. A. van Doorn, A. T. van der Ploeg, J. M. P. van den Hout and N. A. M. E. van der Beek Tags: Research Source Type: research