Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 26, 2020 Category: Internal Medicine Authors: Thomas Opladen, Eduardo L ópez-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Ros Tags: Review Source Type: research

TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases
Many treatments developed for rare diseases will have an Orphan Medicinal Product (OMP) designation, indicating that they are likely to deliver benefit in an area of high unmet need. Their approval may be base... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 26, 2020 Category: Internal Medicine Authors: Lieven Annemans and Amr Makady Tags: Position statement Source Type: research

Transbronchial lung biopsy for the diagnosis of lymphangioleiomyomatosis: the severity of cystic lung destruction assessed by the modified Goddard scoring system as a predictor for establishing the diagnosis
A guide of patient selection for establishing the diagnosis of lymphangioleiomyomatosis (LAM) by transbronchial lung biopsy (TBLB) has not been established, although the pathological confirmation of LAM by lun... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 26, 2020 Category: Internal Medicine Authors: Shouichi Okamoto, Kazuhiro Suzuki, Takuo Hayashi, Keiko Muraki, Tetsutaro Nagaoka, Koichi Nishino, Yasuhito Sekimoto, Shinichi Sasaki, Kazuhisa Takahashi and Kuniaki Seyama Tags: Research Source Type: research

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 25, 2020 Category: Internal Medicine Authors: Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesb ø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan and Grethe Månum Tags: Research Source Type: research

Saccadic reaction time and ocular findings in phenylketonuria
Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocula... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 25, 2020 Category: Internal Medicine Authors: Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer and Susanne Pitz Tags: Research Source Type: research

Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels
Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degener... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 24, 2020 Category: Internal Medicine Authors: Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo L ópez de Munain, Rik J. Lories and Amets Sáenz Tags: Research Source Type: research

Lung function in Birt-Hogg-Dub é syndrome: a retrospective analysis of 96 patients
Birt-Hogg-Dub é syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 24, 2020 Category: Internal Medicine Authors: C. Daccord, V. Cottin, G. Pr évot, Y. Uzunhan, J. F. Mornex, P. Bonniaud, R. Borie, A. Briault, M. A. Collonge-Rame, B. Crestani, G. Devouassoux, O. Freynet, A. Gondouin, P. A. Hauss, C. Khouatra, S. Leroy & hellip; Tags: Research Source Type: research

Study on depressive symptoms in patients with Mayer-Rokitansky-K üster-Hauser syndrome: an analysis of 141 cases
Mayer-Rokitansky-K üster-Hauser (MRKH) syndrome is a rare congenital disease characterized by uterovaginal agenesis. The diagnosis of MRKH syndrome generally leads to considerable emotional burdens on patients.... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 24, 2020 Category: Internal Medicine Authors: Na Chen, Shuang Song, Yanping Duan, Jia Kang, Shan Deng, Hongxin Pan and Lan Zhu Tags: Research Source Type: research

Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disease characterized by heterotopic ossification (HO) in soft tissues and caused by a mutation of the ACVR1A/ALK2 gene. Activin-A is a key... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 24, 2020 Category: Internal Medicine Authors: Hirotsugu Maekawa, Shunsuke Kawai, Megumi Nishio, Sanae Nagata, Yonghui Jin, Hiroyuki Yoshitomi, Shuichi Matsuda and Junya Toguchida Tags: Research Source Type: research

The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States
Spinal muscular atrophy (SMA) is a rare neuromuscular disease with a rapidly evolving treatment landscape. To better meet the needs of trial sponsors and the patient community in the United States (US) in this... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 22, 2020 Category: Internal Medicine Authors: Ilse Peterson, Ros ángel Cruz, Fatou Sarr, Ann Marie Stanley and Jill Jarecki Tags: Position statement Source Type: research

Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review
Satoyoshi syndrome (SS) [OMIM 600705; ORFHA 3130] is a multisystemic disease with a probable autoimmune basis, whose main symptoms are muscle spasms, alopecia, diarrhea and skeletal alterations. Chronic diarrh... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 19, 2020 Category: Internal Medicine Authors: Juli án Solís-García del Pozo, Carlos de Cabo and Javier Solera Tags: Review Source Type: research

Reliability of optic disc edema area in estimating the severity of papilledema in patients with POEMS syndrome
Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome involving multisystem. Optic disc edema (ODE) is the most common ocular m... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 19, 2020 Category: Internal Medicine Authors: Ling-shan Liu, Xiao Zhang, Hao Zhao, Xue-min Gao, Dao-bin Zhou, Rong-ping Dai and Jian Li Tags: Research Source Type: research

Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance
Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 19, 2020 Category: Internal Medicine Authors: Gerda Mickute, Kristina Staley, Heather Delaney, Oliver Gardiner, Amy Hunter, Richard Keen, Lorraine Lockhart, Nick Meade, Maria Newman, Stuart Ralston, Elaine Rush, Sheela Upadhyaya, Sandra Regan, Laura Watts, Jennifer Walsh, Paul White & hellip; Tags: Research Source Type: research

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)
Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as pat... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 14, 2020 Category: Internal Medicine Authors: Karolina M. Stepien, Anait K. Gevorkyan, Christian J. Hendriksz, Tinatin V. Lobzhanidze, Jordi P érez-López, Govind Tol, Mireia del Toro Riera, Nato D. Vashakmadze and Christina Lampe Tags: Research Source Type: research

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990 –2019
Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-relate... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 7, 2020 Category: Internal Medicine Authors: Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling and Joshua J. Todd Tags: Review Source Type: research

Growth charts for Thai children with Prader-Willi syndrome aged 0 –18 years
Prader-Willi syndrome (PWS) is a multisystem genetic disorder, which has a typical eating behavior and growth pattern. In the infancy period, children with PWS have low body weight followed by hyperphagia in l... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 6, 2020 Category: Internal Medicine Authors: Nantiya Mongkollarp, Thipwimol Tim-Aroon, Chusak Okascharoen, Khunton Wichajarn, Jeeraparn Phosuwattanakul, Nalinee Chongviriyaphan and Duangrurdee Wattanasirichaigoon Tags: Research Source Type: research

Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China
Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic testing. Secondary HLH (sHLH) is usually caused by infections, malignancies, or autoimmune disor... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 6, 2020 Category: Internal Medicine Authors: Jia Zhang, Yuan Sun, Xiaodong Shi, Rui Zhang, Yini Wang, Juan Xiao, Jing Cao, Zhuo Gao, Jingshi Wang, Lin Wu, Wei Wei and Zhao Wang Tags: Research Source Type: research

Reuma.pt/vasculitis – the Portuguese vasculitis registry
The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reum... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 5, 2020 Category: Internal Medicine Authors: Cristina Ponte, Nikita Khmelinskii, V ítor Teixeira, Karine Luz, Daniela Peixoto, Marília Rodrigues, Mariana Luís, Lídia Teixeira, Sandra Sousa, Nathalie Madeira, Joana A. Aleixo, Teresa Pedrosa, Sofia Serra, Raquel Campanilho-Marques, Walter Castelã Tags: Research Source Type: research

The natural history of infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 1, 2020 Category: Internal Medicine Authors: Fadie D. Altuame, Gretchen Foskett, Paldeep S. Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A. Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem and Fowzan S. Alkuraya Tags: Research Source Type: research

Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction
Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 29, 2020 Category: Internal Medicine Authors: Meng Ren, Jingru Shi, Jinmeng Jia, Yongli Guo, Xin Ni and Tieliu Shi Tags: Research Source Type: research

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ “beta-ketothiolase”) is an autosomal recessive disorder of ketone body utilization and ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 28, 2020 Category: Internal Medicine Authors: Sarah C. Gr ünert and Jörn Oliver Sass Tags: Research Source Type: research

A scoping review and proposed workflow for multi-omic rare disease research
Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal v... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 28, 2020 Category: Internal Medicine Authors: Katie Kerr, Helen McAneney, Laura J. Smyth, Caitlin Bailie, Shane McKee and Amy Jayne McKnight Tags: Review Source Type: research

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinic... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 25, 2020 Category: Internal Medicine Authors: Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradi Tags: Research Source Type: research

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
We report data at closure of the NPC Registry that descr... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 25, 2020 Category: Internal Medicine Authors: Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg and Mercedes Pineda Tags: Research Source Type: research

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports
Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case st... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 25, 2020 Category: Internal Medicine Authors: Lena H. P. Vroegindeweij, Agnita J. W. Boon, J. H. Paul Wilson and Janneke G. Langendonk Tags: Research Source Type: research

Bone tissue and mineral metabolism in hereditary endocrine tumors: clinical manifestations and genetic bases
Inherited endocrine tumors are neoplasms of endocrine cells, transmitted via autosomal dominant germinal mutations. They present in two different forms: non-syndromic (patient has a single affected endocrine o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 23, 2020 Category: Internal Medicine Authors: Davide Maraghelli, Francesca Giusti, Francesca Marini and Maria Luisa Brandi Tags: Review Source Type: research

Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database
Wolcott-Rallison syndrome (WRS) is characterized by permanent early-onset diabetes, skeletal dysplasia and several additional features, e.g. recurrent liver failure. This is the first multicentre approach that... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 22, 2020 Category: Internal Medicine Authors: Alena Welters, Thomas Meissner, Katja Konrad, Clemens Freiberg, Katharina Warncke, Sylvia Judmaier, Olga Kordonouri, Michael Wurm, Matthias Papsch, Gisela Fitzke, Silke Christina Schmidt, Sascha R. Tittel and Reinhard W. Holl Tags: Research Source Type: research

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
Rubinstein –Taybi syndrome (RTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Previous studies have reported that large deletions contribute to more severe RTS phenotypes than thos... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 22, 2020 Category: Internal Medicine Authors: Yueheng Wu, Yu Xia, Ping Li, Hui-Qi Qu, Yichuan Liu, Yongchao Yang, Jijin Lin, Meng Zheng, Lifeng Tian, Zhuanbin Wu, Shufang Huang, Xianyu Qin, Xianwu Zhou, Shaoxian Chen, Yanying Liu, Yonghua Wang & hellip; Tags: Research Source Type: research

Detection of alpha-1 antitrypsin deficiency: the past, present and future
Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2020 Category: Internal Medicine Authors: Mark Brantly, Michael Campos, Angela M. Davis, Jeanine D ’Armiento, Kenneth Goodman, Kathi Hanna, Miriam O’Day, John Queenan, Robert Sandhaus, James Stoller, Charlie Strange, Jeffrey Teckman and Adam Wanner Tags: Review Source Type: research

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses
The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multi-organ and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision,... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2020 Category: Internal Medicine Authors: Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin and Maurizio Scarpa Tags: Review Source Type: research

Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene
Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2020 Category: Internal Medicine Authors: Jing Yang, Fei Han, Qianlong Chen, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Jian Cao and Xiaoqing Li Tags: Research Source Type: research

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). Glucose 6-phosphate (G6P) availability has ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2020 Category: Internal Medicine Authors: Alessandro Rossi, Chiara Simeoli, Mariacarolina Salerno, Rosario Ferrigno, Roberto Della Casa, Annamaria Colao, Pietro Strisciuglio, Giancarlo Parenti, Rosario Pivonello and Daniela Melis Tags: Research Source Type: research

The French paediatric cohort of Castleman disease: a retrospective report of 23 patients
Castleman disease (CD) is a rare non-malignant lymphoproliferation of undetermined origin. Two major disease phenotypes can be distinguished: unicentric CD (UCD) and multicentric CD (MCD). Diagnosis confirmati... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 17, 2020 Category: Internal Medicine Authors: Charlotte Borocco, Claire Ballot-Schmit, Oanez Ackermann, Nathalie Aladjidi, Jeremie Delaleu, Vannina Giacobbi-Milet, Sarah Jannier, Eric Jeziorski, Fran çois Maurier, Yves Perel, Christophe Piguet, Eric Oksenhendler, Isabelle Koné-Paut and Caroline Gal Tags: Research Source Type: research

Natural history of non-lethal Raine syndrome during childhood
Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe m... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 16, 2020 Category: Internal Medicine Authors: Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio and Gianvincenzo Tags: Research Source Type: research

Diagnosis support systems for rare diseases: a scoping review
Rare diseases affect approximately 350 million people worldwide. Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centers. Consequently, computerized diagn... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 16, 2020 Category: Internal Medicine Authors: Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, R émi Salomon, Stanislas Lyonnet, Sophie Saunier and Anita Burgun Tags: Review Source Type: research

Increased visceral arterial tortuosity in Marfan syndrome
Clinical evidence suggests that the currently recommended approach to estimate the risk of aortic dissection in Marfan syndrome (MFS) is not reliable enough. Therefore, we investigated the possible role of vis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 15, 2020 Category: Internal Medicine Authors: Bence Ágg, Bálint Szilveszter, Noémi Daradics, Kálmán Benke, Roland Stengl, Márton Kolossváry, Miklós Pólos, Tamás Radovits, Péter Ferdinandy, Béla Merkely, Pál Maurovich-Horvat and Zoltán Szabolcs Tags: Research Source Type: research

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases
The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) ge... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 15, 2020 Category: Internal Medicine Authors: Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer and Alaa Hamed Tags: Research Source Type: research

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!
Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 10, 2020 Category: Internal Medicine Authors: Sarah C. Gr ünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller and Ute Spiekerkoetter Tags: Research Source Type: research

Natural history of lung function in spinal muscular atrophy
Respiratory muscle weakness is an important feature of spinal muscular atrophy (SMA). Progressive lung function decline is the most important cause of mortality and morbidity in patients. The natural history o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 10, 2020 Category: Internal Medicine Authors: Camiel A. Wijngaarde, Esther S. Veldhoen, Ruben P. A. van Eijk, Marloes Stam, Louise A. M. Otto, Fay-Lynn Asselman, Roelie M. W östen-van Asperen, Erik H. J. Hulzebos, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Inge Cuppen, Renske I. Wadman, Leona Tags: Research Source Type: research

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 10, 2020 Category: Internal Medicine Authors: Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Fei Tags: Research Source Type: research

The French national protocol for Kennedy ’s disease (SBMA): consensus diagnostic and management recommendations
Kennedy ’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gen... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 10, 2020 Category: Internal Medicine Authors: Pierre-Fran çois Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede and Claude Desnuelle Tags: Research Source Type: research

The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts
Oral migalastat has recently been approved for the treatment of Anderson-Fabry disease (FD) in patients aged ≥16 years with amenable mutations on the basis of two phase III trials, FACETS and ATTRACT. However,... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 7, 2020 Category: Internal Medicine Authors: Cristina Chimenti, Patrizia Nencini, Federico Pieruzzi, Sandro Feriozzi, Renzo Mignani, Maurizio Pieroni and Antonio Pisani Tags: Position statement Source Type: research

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures
Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the aci... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 5, 2020 Category: Internal Medicine Authors: P. Vanherpe, S. Fieuws, A. D ’Hondt, C. Bleyenheuft, P. Demaerel, J. De Bleecker, P. Van den Bergh, J. Baets, G. Remiche, K. Verhoeven, S. Delstanche, M. Toussaint, B. Buyse, P. Van Damme, C. E. Depuydt and K. G. Claeys Tags: Research Source Type: research

Longitudinal natural history of type I spinal muscular atrophy: a critical review
The advent of new therapies in spinal muscular atrophy (SMA) has highlighted the need to have natural history data for comparison. Natural history studies using structured assessments in type I however are ver... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 5, 2020 Category: Internal Medicine Authors: Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb and Richard S. Finkel Tags: Review Source Type: research

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endoso... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 5, 2020 Category: Internal Medicine Authors: Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier & Tags: Research Source Type: research

Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
This study investigated the agreement between various dried blood spot (DBS) and venous blood sample measurements of phenylalanine and tyrosine concentrations in Phenylketonuria (PKU) and Tyrosinemia type 1 (T... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 3, 2020 Category: Internal Medicine Authors: Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen and M. Rebecca Heiner-Fokkema Tags: Research Source Type: research

LipoDDx: a mobile application for identification of rare lipodystrophy syndromes
Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 2, 2020 Category: Internal Medicine Authors: David Ara újo-Vilar, Antía Fernández-Pombo, Gemma Rodríguez-Carnero, Miguel Ángel Martínez-Olmos, Ana Cantón, Rocío Villar-Taibo, Álvaro Hermida-Ameijeiras, Alicia Santamaría-Nieto, Carmen Díaz-Ortega, Carmen Martínez-Rey, Antonio Antela, Elen Tags: Research Source Type: research

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causativ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 31, 2020 Category: Internal Medicine Authors: Kristofer Andersson, Barbro Malmgren, Eva Åström, Ann Nordgren, Fulya Taylan and Göran Dahllöf Tags: Research Source Type: research

Correction to: Immunological features of patients affected by Barraquer-Simons syndrome
Discussion section as follows. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 30, 2020 Category: Internal Medicine Authors: Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sof ía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar and Margarita López Tags: Correction Source Type: research

Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)
To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 27, 2020 Category: Internal Medicine Authors: Xianru Jiao, Jiao Xue, Pan Gong, Xinhua Bao, Ye Wu, Yuehua Zhang, Yuwu Jiang and Zhixian Yang Tags: Research Source Type: research