Articles

Research activity and capability in the European reference network MetabERN

MetabERN is one of the 24 European Reference Networks created according to the European Union directive 2011/24/EU on patient’s rights in cross border healthcare. MetabERN associates 69 centres in 18 countries...

Authors: Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen and Maurizio Scarpa

New simple and quick method to analyze serum variant transthyretins: direct MALDI method for the screening of hereditary transthyretin amyloidosis

Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is caused by a variant transthyretin (TTR), which is a serum protein secreted by the liver. Mass spectrometry (MS) is a useful tool that can detect vari...

Authors: Toshiya Nomura, Mitsuharu Ueda, Masayoshi Tasaki, Yohei Misumi, Teruaki Masuda, Yasuteru Inoue, Yukimoto Tsuda, Masamitsu Okada, Takahiro Okazaki, Kyosuke Kanenawa, Aito Isoguchi, Makoto Nakamura, Konen Obayashi, Satoru Shinriki, Hirotaka Matsui, Taro Yamashita…

Linear IgA bullous dermatosis in adults and children: a clinical and immunopathological study of 38 patients

Linear IgA bullous dermatosis (LABD) is a rare autoimmune subepithelial vesiculobullous disease due to IgA autoantibodies directed against different antigens of the basement membrane zone (BMZ) of the skin and...

Authors: Giovanni Genovese, Luigia Venegoni, Daniele Fanoni, Simona Muratori, Emilio Berti and Angelo Valerio Marzano

Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte

Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complica...

Authors: Hyoung Soo Choi, Qute Choi, Jung-Ah Kim, Kyong Ok Im, Si Nae Park, Yoomi Park, Hee Young Shin, Hyoung Jin Kang, Hoon Kook, Seon Young Kim, Soo-Jeong Kim, Inho Kim, Ji Yoon Kim, Hawk Kim, Kyung Duk Park, Kyung Bae Park…

Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

The original version of this article [1] unfortunately included an error to an author’s name. Author Maja Di Rocco was erroneously presented as Maja DiRocco.

Authors: Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan and Frederick S. Kaplan

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients.

Authors: Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh and Hamida Turki

Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm

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Authors: Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii and Yukio Ando

Linear scleroderma “en coup de sabre” with extensive brain involvement—Clinicopathologic correlations and response to anti-Interleukin-6 therapy

Linear scleroderma “en coup de sabre” (LSES) variant is a cephalic subtype of localized scleroderma that can be associated with extracutaneous stigmata, such as epilepsy, dementia syndromes, as well as focal c...

Authors: Cynthia M. Magro, Pierre Halteh, Luke C. Olson, Ilya Kister and Lee Shapiro

Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases

The importance of late-onset cobalamin C (cblC) disorder is underestimated in adults. Improved awareness on its clinical and neuroimaging features helps timely diagnosis and appropriate treatment.

Authors: Xianling Wang, Yanhui Yang, Xuying Li, Cunjiang Li and Chaodong Wang

Screening for neuropathic pain in patients with sickle cell disease: is a single assessment scale sufficient?

The objectives of this study were to delineate the clinical-epidemiological profile of patients with neuropathic pain (NP) in the groups of SCD patients, from each of the three questionnaires used DN-4, painDE...

Authors: Fabricio Dias Antunes, Cidson Leonardo Silva Junior, Karine Santos Cerqueira, Maira do Livramento Faro and Rosana Cipolotti

Correction to: Vascular suture line wrapping for aortoiliac anastomoses following open surgical repair of infrarenal Behçet’s aortoiliac aneurysms

Following the publication of this article [1], the authors informed us of a typographical error in the spelling of “ePET-Dacron®” in the Background section. The sentence to be corrected is the following: “Whil...

Authors: Ahmed Mousa, Ibrahim Hanbal, Alaa Sharabi, Mohammed A. Nasr, Abdelfattah K. Nassar and Mai A. Elkalla

Correction to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study

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Authors: Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin and Sascha Meyer

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial

X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined ...

Authors: Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke…

Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review

After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below.

Authors: James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake and Melita D. Irving

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1

Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson’s disease (PD) is the second most common neurodegenerative condition. The cl...

Authors: Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher and Ida V. D. Schwartz

Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients

Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. ...

Authors: Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch, Valeria Ricotti, Leo J. Russo, Alesia Sadosky, Edward C. Smith and Holly L. Peay

The neuropsychological phenotype of Chediak-Higashi disease

Chediak-Higashi Disease (CHD) is a rare autosomal disorder, purported to have cognitive and neurological impairments. Prior descriptions of cognitive impairment, however, are solely based on subjective, unstru...

Authors: Talia N. Shirazi, Joseph Snow, Lillian Ham, Greta B. Raglan, Edythe A. Wiggs, Angela C. Summers, Camilo Toro and Wendy J. Introne

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of...

Authors: Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi…

Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium

Late and misdiagnoses of rare disease patients are common and often result in medical, physical and mental burden for the patient, and financial and emotional burden for the patient’s family. Low rare disease ...

Authors: Liese Vandeborne, Eline van Overbeeke, Marc Dooms, Birgit De Beleyr and Isabelle Huys

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification...

Authors: Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan and Frederick S. Kaplan

Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal instability disorder that leads to aneuploidies of different chromosomes in various tissues. Type 1 MVA (MVA1) is caused by mutations in the budding...

Authors: Alexandra Laberko, Dmitry Balashov, Elena Deripapa, Olga Soldatkina, Elena Raikina, Alexei Maschan, Galina Novichkova and Anna Shcherbina

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been us...

Authors: Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Matthias K. Bernhard, Cornelis M. van Tilburg, Georg F. Hoffmann, Matthias Gorenflo, Sven Hethey, Olaf Kaiser, Stefan Kölker, Robert Wagner, Olaf Witt, Andreas Merkenschlager…

Comparing access to orphan medicinal products in Europe

The primary objective of this study was to compare the availability and access of orphan medicinal products (OMPs) in the devolved nations in the United Kingdom (UK), France, Germany, Italy and Spain. Availabi...

Authors: Bernarda Zamora, Francois Maignen, Phill O’Neill, Jorge Mestre-Ferrandiz and Martina Garau

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool

Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic fea...

Authors: Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer and Pierre Wolkenstein

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four enzymes involved in the degradation of heparan sulfate. ...

Authors: Nicole M. Muschol, Daniel Pape, Kai Kossow, Kurt Ullrich, Laila Arash-Kaps, Julia B. Hennermann, Ralf Stücker and Sandra R. Breyer

Inherited ichthyoses: molecular causes of the disease in Czech patients

Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatol...

Authors: Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová and Lenka Fajkusová

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor forma...

Authors: Stéphane Auvin, John J. Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F. L. Hofbauer, Anna C. Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J. Christopher Kingswood, Romina Moavero, Roser Torra and Vicente Villanueva

Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome

Autonomous ovarian activation with recurrent estrogen-producing cysts is a hallmark feature of the rare bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome. Precocious puberty in girls with ...

Authors: Alison M. Boyce, Rachel K. Casey, Diana Ovejero Crespo, Cynthia M. Murdock, Andrea Estrada, Lori C. Guthrie, Beth A. Brillante, Veronica Gomez-Lobo, Lynette K. Nieman and Michael T. Collins

Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers

Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A. Neurological involvement results in severe disability and premature ...

Authors: Magdalena Harrington, Diane Whalley, James Twiss, Rebecca Rushton, Susan Martin, Lynn Huynh and Hongbo Yang

Demography of vascular Behcet’s disease with different gender and age: an investigation with 166 Chinese patients

The Clinical features of vascular Behcet’s disease (BD) are not well understood because there are few studies. Our study aimed to investigate characteristics of vascular BD in both genders in different age gro...

Authors: Yong Chen, Jian-Fei Cai, Chen-Hong Lin and Jian-Long Guan

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin. The αIIbβ3 is a platelet fibrinogen receptor...

Authors: F. Zafarghandi Motlagh, M. S. Fallah, H. Bagherian, T. Shirzadeh, S. Ghasri, S. Dabbagh, M. Jamali, Z. Salehi, M. Abiri and S. Zeinali

The natural history of classic galactosemia: lessons from the GalNet registry

Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to b...

Authors: M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert…

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by tissue-nonspecific alkaline phosphatase deficiency, characterized by bone mineralization defects and systemic complications. Understandi...

Authors: Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov and Gabriel Ángel Martos-Moreno

Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency

Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. Isolated MMA is primarily caus...

Authors: Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review

Hereditary spastic paraplegias (HSP) are of great clinical and genetic heterogeneity. According to the clinical features, HSP can be divided into pure or complicated subtypes which combined with other neurolog...

Authors: Fang Peng, Yi-Min Sun, Chao Quan, Jian Wang and Jian-Jun Wu

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as...

Authors: Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil…

Vascular suture line wrapping for Aortoiliac anastomoses following open surgical repair of Infrarenal Behçet’s Aortoiliac aneurysms

This study was conducted to evaluate our local experiences of adjunctive mechanical prosthetic wrapping for aortoiliac vascular anastomoses as a prophylactic measure following surgical repair of Behçet’s aorto...

Authors: Ahmed Mousa, Ibrahim Hanbal, Alaa Sharabi, Mohammed A. Nasr, Abdelfattah K. Nassar and Mai A. Elkalla

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders

Neonatal manifestation of life-threatening hyperammonemic encephalopathy in urea cycle disorders (UCD) is often misdiagnosed as neonatal sepsis, resulting in significantly delayed start of specific treatment a...

Authors: Ulrike Teufel, Peter Burgard, Jochen Meyburg, Martin Lindner, Johannes Poeschl, Peter Ruef, Georg F. Hoffmann and Stefan Kölker

Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

Tetralogy of Fallot (TOF) is the most frequent cyanotic congenital heart defect. TOF mortality has fallen remarkably in recent years due to therapeutic advances. Accordingly, the aim of this study was to asses...

Authors: Laura Llamosas-Falcón, Eva Bermejo-Sánchez, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz and Verónica Alonso-Ferreira

Characteristics of Pompe disease in China: a report from the Pompe registry

Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This is the first report of Chinese patients from the global Pompe Regis...

Authors: Yuying Zhao, Zhaoxia Wang, Jiahong Lu, Xuefan Gu, Yonglan Huang, Zhengqing Qiu, Yanping Wei and Chuanzhu Yan

Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study

Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, bu...

Authors: Carl Michael Baravelli, Sverre Sandberg, Aasne Karine Aarsand and Mette Christophersen Tollånes

Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensus

Discussions continue as to whether ventricular septal defects are best categorized according to their right ventricular geography or their borders. This is especially true when considering the perimembranous d...

Authors: Justin T. Tretter, Vi-Hue Tran, Seth Gray, Hieu Ta, Rohit S. Loomba, William O’Connor, Diane E. Spicer, Andrew C. Cook and Robert H. Anderson

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy

Authors: Erik Landfeldt, Hanns Lochmüller and Peter Lindgren

“Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being

Spinal muscular atrophy (SMA) has profound implications across a lifetime for people with the condition and their families. Those affected need long-term multidisciplinary medical and supportive care to mainta...

Authors: Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Nadine A. Kasparian and Michelle A. Farrar

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental di...

Authors: Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho and Dau-Ming Niu

Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis

Endostatin is a naturally occurring collagen fragment with anti-angiogenic properties. We investigated the association between serum endostatin levels and DLCO in a cohort of patients with lymphangioleiomyomat...

Authors: Anthony M. Lamattina, Sergio Poli, Pranav Kidambi, Shefali Bagwe, Andrew Courtwright, Pierce H. Louis, Shikshya Shrestha, Benjamin Stump, Hilary J. Goldberg, Elizabeth A. Thiele, Ivan Rosas, Elizabeth P. Henske and Souheil El-Chemaly

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

To evaluate whether immunomodulation can eliminate high sustained antibody levels, and thereby improve clinical outcome in classic infantile Pompe patients receiving enzyme replacement therapy (ERT) with recom...

Authors: E. Poelman, M. Hoogeveen-Westerveld, J. M. P. van den Hout, R. G. M. Bredius, A. C. Lankester, G. J. A. Driessen, S. S. M. Kamphuis, W. W. M. Pijnappel and A. T. van der Ploeg

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative compa...

Authors: Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little…

Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study

Rare disease diagnosis is often delayed by years. A primary factor for this delay is a lack of knowledge and awareness regarding rare diseases. Probabilistic diagnostic decision support systems (DDSSs) have th...

Authors: Simon Ronicke, Martin C. Hirsch, Ewelina Türk, Katharina Larionov, Daphne Tientcheu and Annette D. Wagner

The Korean undiagnosed diseases program: lessons from a one-year pilot project

The Korean Undiagnosed Diseases Program (KUDP) was launched in January 2017 as a one-year pilot project to address the increasing global interest in patients with undiagnosed rare diseases. The purpose of this...

Authors: Soo Yeon Kim, Byung Chan Lim, Jin Sook Lee, Woo Joong Kim, Hyuna Kim, Jung Min Ko, Ki Joong Kim, Sun Ah Choi, Hunmin Kim, Hee Hwang, Ji Eun Choi, Anna Cho, Jangsup Moon, Moon Woo Seong, Sung Sup Park, Yun Jeong Lee…