Works matching IS 17501172 AND DT 2018 AND VI 13

Results: 230

Impact of biobanks on research outcomes in rare diseases: a systematic review.

Published in:

2018

By:

Garcia, Monique;
Downs, Jenny;
Russell, Alyce;
Wang, Wei

Publication type:

journal article

Illustration of patient-reported outcome challenges and solutions in rare diseases: a systematic review in Cushing's syndrome.

Published in:

2018

By:

Knoble, Naomi;
Nayroles, Gabrielle;
Cheng, Cherry;
Arnould, Benoit

Publication type:

journal article

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet".

Published in:

2018

By:

Bertalan, R.;
Lucas-Herald, A.;
Kolesinska, Z.;
Berra, M.;
Cools, Martine;
Balsamo, A.;
Hiort, O.

Publication type:

journal article

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses.

Published in:

2018

By:

Maincent, Kim;
Héron, Bénédicte;
Billette de Villemeur, Thierry;
Mayer, Michèle

Publication type:

journal article

Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.

Published in:

2018

By:

Tian, Xinlun;
Xu, Kai-Feng;
Guo, Xiaobei;
Liu, Keqiang;
Liu, Yaping;
Zhang, Xue;
Situ, Yusen

Publication type:

journal article

Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study.

Published in:

2018

By:

Arponen, Heidi;
Bachour, Adel;
Bäck, Leif;
Valta, Helena;
Mäkitie, Antti;
Waltimo-Sirén, Janna;
Mäkitie, Outi

Publication type:

journal article

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

Published in:

2018

By:

Zhang, Xiao;
Zhang, Yanqin;
Zhang, Yanmei;
Gu, Hongbo;
Chen, Zhe;
Ren, Lei;
Lu, Xingxing;
Chen, Li;
Wang, Fang;
Liu, Yuhe;
Ding, Jie

Publication type:

journal article

Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism.

Published in:

2018

By:

Welters, Alena;
Meissner, Thomas;
Grulich-Henn, Jürgen;
Fröhlich-Reiterer, Elke;
Warncke, Katharina;
Mohnike, Klaus;
Blankenstein, Oliver;
Menzel, Ulrike;
Datz, Nicolin;
Bollow, Esther;
Holl, Reinhard W.

Publication type:

journal article

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.

Published in:

2018

By:

Pascoal, Carlota;
Brasil, Sandra;
Francisco, Rita;
Marques-da-Silva, Dorinda;
Rafalko, Agnes;
Jaeken, Jaak;
Videira, Paula A.;
Barros, Luísa;
dos Reis Ferreira, Vanessa

Publication type:

journal article

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Published in:

2018

By:

Haskovic, Minela;
Derks, Britt;
van der Ploeg, Liesbeth;
Trommelen, Jorn;
Nyakayiru, Jean;
van Loon, Luc J. C.;
Mackinnon, Sabrina;
Yue, Wyatt W.;
Peake, Roy W. A.;
Zha, Li;
Demirbas, Didem;
Qi, Wanshu;
Huang, Xiaoping;
Berry, Gerard T.;
Achten, Jelle;
Bierau, Jörgen;
Rubio-Gozalbo, M. Estela;
Coelho, Ana I.

Publication type:

journal article

Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature.

Published in:

2018

By:

Zhu, Yanfei;
Zou, Yin;
Yu, Qian;
Sun, Huijun;
Mou, Sixuan;
Xu, Shuhua;
Zhu, Min

Publication type:

journal article

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

Published in:

2018

By:

Chang, Jui-Hsing;
Hsu, Chyong-Hsin;
Lin, Pei-Yi;
Lin, Shuan-Pei;
Tsai, Jeng-Daw;
Lin, Chun-Chen;
Lee, Ming-Dar;
Tseng, Min-Hua;
Zenker, Martin;
Rao, Jia;
Hildebrandt, Friedhelm;
Lin, Shih-Hua

Publication type:

journal article

Influence of baseline neurologic severity on disease progression and the associated disease-modifying effects of tafamidis in patients with transthyretin amyloid polyneuropathy.

Published in:

2018

By:

Amass, Leslie;
Li, Huihua;
Keohane, Denis J.;
Gundapaneni, Balarama K.;
Schwartz, Jeffrey H.

Publication type:

journal article

Comorbidity among HHT patients and their controls in a 20 years follow-up period.

Published in:

2018

By:

Aagaard, Katrine Saldern;
Kjeldsen, Anette Drøhse;
Tørring, Pernille Mathiesen;
Green, Anders

Publication type:

journal article

Air travel and incidence of pneumothorax in lymphangioleiomyomatosis.

Published in:

2018

By:

Gonano, Cynthia;
Pasquier, Jérôme;
Daccord, Cécile;
Johnson, Simon R.;
Harari, Sergio;
Leclerc, Violette;
Falconer, Lucy;
Miano, Eleonora;
Cordier, Jean-François;
Cottin, Vincent;
Lazor, Romain

Publication type:

journal article

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.

Published in:

2018

By:

Skorczyk-Werner, Anna;
Wawrocka, Anna;
Kochalska, Natalia;
Krawczynski, Maciej Robert

Publication type:

journal article

Determining the value contribution of selexipag for the treatment of pulmonary arterial hypertension (PAH) in Spain using reflective multi-criteria decision analysis (MCDA).

Published in:

2018

By:

Jiménez, Alberto;
Ais, Arantza;
Beaudet, Amélie;
Gil, Alicia

Publication type:

journal article

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.

Published in:

2018

By:

Häberle, Johannes;
Chakrapani, Anupam;
Ah Mew, Nicholas;
Longo, Nicola

Publication type:

journal article

The French National Registry of patients with Facioscapulohumeral muscular dystrophy.

Published in:

2018

By:

Guien, Céline;
Blandin, Gaëlle;
Lahaut, Pauline;
Sanson, Benoît;
Nehal, Katia;
Rabarimeriarijaona, Sitraka;
Bernard, Rafaëlle;
Lévy, Nicolas;
Sacconi, Sabrina;
Béroud, Christophe

Publication type:

journal article

A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008-2015.

Published in:

2018

By:

Cohen, Bruce;
Balcells, Cristy;
Hotchkiss, Brian;
Aggarwal, Kavita;
Karaa, Amel

Publication type:

journal article

Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis.

Published in:

2018

By:

Jia, Jason L.;
Chen, Shiyi;
Sivarajah, Vishalini;
Stephens, Derek;
Cortez, Miguel A.

Publication type:

journal article

Oncologic orphan drugs approved in the EU - do clinical trial data correspond with real-world effectiveness?

Published in:

2018

By:

Schuller, Yvonne;
Biegstraaten, Marieke;
Hollak, Carla E. M.;
Klümpen, Heinz-Josef;
Gispen-de Wied, Christine C.;
Stoyanova-Beninska, Violeta

Publication type:

journal article

Mapping health care of rare diseases: the example of epidermolysis bullosa in Germany.

Published in:

2018

By:

Reimer, Antonia;
Bruckner-Tuderman, Leena;
Ott, Hagen

Publication type:

journal article

Immune cell phenotype and functional defects in Netherton syndrome.

Published in:

2018

By:

Eränkö, Elina;
Ilander, Mette;
Tuomiranta, Mirja;
Mäkitie, Antti;
Lassila, Tea;
Kreutzman, Anna;
Klemetti, Paula;
Mustjoki, Satu;
Hannula-Jouppi, Katariina;
Ranki, Annamari

Publication type:

journal article

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Published in:

2018

By:

Thompson, Rachel;
Abicht, Angela;
Beeson, David;
Engel, Andrew G.;
Eymard, Bruno;
Maxime, Emmanuel;
Lochmüller, Hanns

Publication type:

journal article

Federating patients identities: the case of rare diseases.

Published in:

2018

By:

Maaroufi, Meriem;
Landais, Paul;
Messiaen, Claude;
Jaulent, Marie-Christine;
Choquet, Rémy

Publication type:

journal article

Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex.

Published in:

2018

By:

Ablinger, Michael;
Felder, Thomas K.;
Wimmer, Monika;
Zauner, Roland;
Hofbauer, Peter;
Lettner, Thomas;
Wolkersdorfer, Martin;
Lagler, Florian B.;
Diem, Anja;
Bauer, Johann W.;
Wally, Verena

Publication type:

clinical trial

Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan's initiative on rare and undiagnosed diseases (IRUD).

Published in:

2018

By:

Adachi, Takeya;
Imanishi, Noriaki;
Ogawa, Yasushi;
Furusawa, Yoshihiko;
Izumida, Yoshihiko;
Izumi, Yoko;
Suematsu, Makoto

Publication type:

journal article

Fear of disease progression in carriers of the m.3243A > G mutation.

Published in:

2018

By:

Custers, José A. E.;
de Laat, Paul;
Koene, Saskia;
Smeitink, Jan;
Janssen, Mirian C. H.;
Verhaak, Christianne

Publication type:

journal article

Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.

Published in:

2018

By:

Holopainen, Elina;
Vakkilainen, Svetlana;
Mäkitie, Outi

Publication type:

journal article

Evidence supporting regulatory-decision making on orphan medicinal products authorisation in Europe: methodological uncertainties.

Published in:

2018

By:

Pontes, Caridad;
Fontanet, Juan Manuel;
Vives, Roser;
Sancho, Aranzazu;
Gómez-Valent, Mònica;
Ríos, José;
Morros, Rosa;
Martinalbo, Jorge;
Posch, Martin;
Koch, Armin;
Roes, Kit;
Rengerink, Katrien Oude;
Torrent-Farnell, Josep;
Torres, Ferran;
Oude Rengerink, Katrien

Publication type:

journal article

Efficacy and safety of low-dose Sirolimus in Lymphangioleiomyomatosis.

Published in:

2018

By:

Yoon, Hee-Young;
Hwang, Jung Jin;
Kim, Dong Soon;
Song, Jin Woo

Publication type:

journal article

Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients.

Published in:

2018

By:

Marini, Francesca;
Giusti, Francesca;
Brandi, Maria Luisa

Publication type:

journal article

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4).

Published in:

2018

By:

Brantley, Kristen D;
Douglas, Teresa D;
Singh, Rani H

Publication type:

journal article

Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study.

Published in:

2018

By:

Hammer, Jennifer;
Seront, Emmanuel;
Duez, Steven;
Dupont, Sophie;
Van Damme, An;
Schmitz, Sandra;
Hoyoux, Claire;
Chopinet, Caroline;
Clapuyt, Philippe;
Hammer, Frank;
Vikkula, Miikka;
Boon, Laurence M.

Publication type:

journal article

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.

Published in:

2018

By:

Gonzales, Emmanuel;
Matarazzo, Lorenza;
Franchi-Abella, Stéphanie;
Dabadie, Alain;
Cohen, Joseph;
Habes, Dalila;
Hillaire, Sophie;
Guettier, Catherine;
Taburet, Anne-Marie;
Myara, Anne;
Jacquemin, Emmanuel

Publication type:

journal article

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data.

Published in:

2018

By:

Odnoletkova, Irina;
Kindle, Gerhard;
Quinti, Isabella;
Grimbacher, Bodo;
Knerr, Viviane;
Gathmann, Benjamin;
Ehl, Stephan;
Mahlaoui, Nizar;
Van Wilder, Philippe;
Bogaerts, Kris;
de Vries, Esther;
Plasma Protein Therapeutics Association (PPTA) Taskforce

Publication type:

journal article

Applicability and added value of novel methods to improve drug development in rare diseases.

Published in:

2018

By:

Mitroiu, Marian;
Rengerink, Katrien Oude;
Pontes, Caridad;
Sancho, Aranzazu;
Vives, Roser;
Pesiou, Stella;
Fontanet, Juan Manuel;
Torres, Ferran;
Nikolakopoulos, Stavros;
Pateras, Konstantinos;
Rosenkranz, Gerd;
Posch, Martin;
Urach, Susanne;
Ristl, Robin;
Koch, Armin;
Loukia, Spineli;
van der Lee, Johanna H.;
Roes, Kit C. B.;
Oude Rengerink, Katrien

Publication type:

journal article

Inhibitor clinical burden of disease: a comparative analysis of the CHESS data.

Published in:

2018

By:

Oladapo, Abiola O.;
Lu, Mei;
Walsh, Shaun;
O'Hara, Jamie;
Kauf, Teresa L.

Publication type:

journal article

Burden of albinism: development and validation of a burden assessment tool.

Published in:

2018

By:

Morice-Picard, Fanny;
Taïeb, Charles;
Marti, Aurelie;
Gliksohn, Antoine;
Bennani, Mohammed;
Bodemer, Christine;
Ezzedine, Khaled;
Filière Maladies Rares en Dermatologie: FIMARAD

Publication type:

journal article

Recommendations for the design of small population clinical trials.

Published in:

2018

By:

Day, Simon;
Jonker, Anneliene Hechtelt;
Lau, Lilian Pek Lian;
Hilgers, Ralf-Dieter;
Irony, Ilan;
Larsson, Kristina;
Roes, Kit Cb;
Stallard, Nigel

Publication type:

journal article

From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.

Published in:

2018

By:

Kaufmann, Petra;
Pariser, Anne R;
Austin, Christopher

Publication type:

journal article

The European challenges of funding orphan medicinal products.

Published in:

2018

By:

Szegedi, Márta;
Zelei, Tamás;
Arickx, Francis;
Bucsics, Anna;
Cohn-Zanchetta, Emanuelle;
Fürst, Jurij;
Kamusheva, Maria;
Kawalec, Pawel;
Petrova, Guenka;
Slaby, Juraj;
Stawowczyk, Ewa;
Vocelka, Milan;
Zechmeister-Koss, Ingrid;
Kaló, Zoltán;
Molnár, Mária Judit

Publication type:

journal article

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.

Published in:

2018

By:

Rattay, Tim W.;
Just, Jennifer;
Röben, Benjamin;
Hengel, Holger;
Schüle, Rebecca;
Synofzik, Matthis;
Söhn, Anne S.;
Winter, Natalie;
Dammeier, Nele;
Schöls, Ludger;
Grimm, Alexander

Publication type:

journal article

Follow-up analysis of voice quality in patients with late-onset Pompe disease.

Published in:

2018

By:

Szklanny, Krzysztof;
Tylki-Szymańska, Anna

Publication type:

journal article

From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Published in:

2018

By:

Gagnon, Cynthia;
Brais, Bernard;
Lessard, Isabelle;
Lavoie, Caroline;
Côté, Isabelle;
Mathieu, Jean

Publication type:

journal article

Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study.

Published in:

2018

By:

Najirad, Mohammadamin;
Ma, Mang Shin;
Rauch, Frank;
Sutton, Vernon Reid;
Lee, Brendan;
Retrouvey, Jean-Marc;
Esfandiari, Shahrokh;
Members of the BBD

Publication type:

journal article

Estrogen is involved in hemangioma regression associated with mast cells.

Published in:

2018

By:

Hou, Fang;
Dai, Yuemeng;
Fan, Chun-Yang;
Suen, James Y.;
Richter, Gresham T.

Publication type:

journal article

White matter microstructural damage in early treated phenylketonuric patients.

Published in:

2018

By:

González, María Julieta;
Polo, Mónica Rebollo;
Ripollés, Pablo;
Gassió, Rosa;
Ormazabal, Aída;
Sierra, Cristina;
Roura, Roser Colomé;
Artuch, Rafael;
Campistol, Jaume

Publication type:

journal article

Treatment patterns and healthcare resource utilization among patients with hereditary angioedema in the United States.

Published in:

2018

By:

Riedl, Marc A;
Banerji, Aleena;
Manning, Michael E;
Burrell, Earl;
Watson, Douglas J;
Joshi, Namita;
Patel, Dipen;
Tai, Ming-Hui;
Machnig, Thomas

Publication type:

journal article