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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact?
Published in:
2018
By:
- Lenders, Malte;
- Schmitz, Boris;
- Brand, Stefan-Martin;
- Brand, Eva
Publication type:
Letter
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
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
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
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.
Published in:
2018
By:
- Li, Niu;
- Wang, Yirou;
- Yang, Yu;
- Wang, Pengpeng;
- Huang, Hui;
- Xiong, Shiyi;
- Sun, Luming;
- Cheng, Min;
- Song, Cui;
- Cheng, Xinran;
- Ding, Yu;
- Chang, Guoying;
- Chen, Yao;
- Xu, Yufei;
- Yu, Tingting;
- Yao, Ru-en;
- Shen, Yiping;
- Wang, Xiumin;
- Wang, Jian
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
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age.
Published in:
2018
By:
- Muntau, Ania C.;
- du Moulin, Marcel;
- Feillet, Francois
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
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
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
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
Cost-effectiveness analysis of lumacaftor and ivacaftor combination for the treatment of patients with cystic fibrosis in the United States.
Published in:
2018
By:
- Sharma, Dolly;
- Xing, Shan;
- Hung, Yu-Ting;
- Caskey, Rachel N.;
- Dowell, Maria L.;
- Touchette, Daniel R.
Publication type:
journal article
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Published in:
2018
By:
- Bijarnia-Mahay, Sunita;
- Häberle, Johannes;
- Jalan, Anil B.;
- Puri, Ratna Dua;
- Kohli, Sudha;
- Kudalkar, Ketki;
- Rüfenacht, Véronique;
- Gupta, Deepti;
- Maurya, Deepshikha;
- Verma, Jyotsna;
- Shigematsu, Yosuke;
- Yamaguchi, Seiji;
- Saxena, Renu;
- Verma, Ishwar C.
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
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

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