Works matching IS 17501172 AND DT 2018 AND VI 13

Results: 230

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Published in:

2018

By:

Gales, Ana;
Masingue, Marion;
Millecamps, Stephanie;
Giraudier, Stephane;
Grosliere, Laure;
Adam, Claude;
Salim, Claudio;
Navarro, Vincent;
Nadjar, Yann

Publication type:

journal article

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.

Published in:

2018

By:

Kwon, Jennifer M.;
Matern, Dietrich;
Kurtzberg, Joanne;
Wrabetz, Lawrence;
Gelb, Michael H.;
Wenger, David A.;
Ficicioglu, Can;
Waldman, Amy T.;
Burton, Barbara K.;
Hopkins, Patrick V.;
Orsini, Joseph J.

Publication type:

journal article

Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR.

Published in:

2018

By:

Richter, Trevor;
Janoudi, Ghayath;
Amegatse, William;
Nester-Parr, Sandra

Publication type:

journal article

Common drug review recommendations for orphan drugs in Canada: basis of recommendations and comparison with similar reviews in Quebec, Australia, Scotland and New Zealand.

Published in:

2018

By:

McCormick, John I.;
Berescu, L. Diana;
Tadros, Nabil

Publication type:

journal article

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

Published in:

2018

By:

Marti-Sanchez, L.;
Ortigoza-Escobar, J. D.;
Darling, A.;
Villaronga, M.;
Baide, H.;
Molero-Luis, M.;
Batllori, M.;
Vanegas, M. I.;
Muchart, J.;
Aquino, L.;
Artuch, R.;
Macaya, A.;
Kurian, M. A.;
Dueñas, Pérez

Publication type:

journal article

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Published in:

2018

By:

Słowińska, Monika;
Jóźwiak, Sergiusz;
Peron, Angela;
Borkowska, Julita;
Chmielewski, Dariusz;
Sadowski, Krzysztof;
Jurkiewicz, Elżbieta;
Vignoli, Aglaia;
La Briola, Francesca;
Canevini, Maria Paola;
Kotulska-Jóźwiak, Katarzyna;
Słowińska, Monika;
Jóźwiak, Sergiusz;
Jurkiewicz, Elżbieta;
Kotulska-Jóźwiak, Katarzyna

Publication type:

journal article

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

Published in:

2018

By:

Di Rocco, Maja;
Pisciotta, Livia;
Madeo, Annalisa;
Bertamino, Marta;
Bertolini, Stefano

Publication type:

journal article

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Published in:

2018

By:

Komlosi, Katalin;
Diederich, Stefan;
Fend-Guella, Desiree Lucia;
Bartsch, Oliver;
Winter, Jennifer;
Zechner, Ulrich;
Beck, Michael;
Meyer, Peter;
Schweiger, Susann

Publication type:

journal article

PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases.

Published in:

2018

By:

Adler, Angela;
Kirchmeier, Pia;
Reinhard, Julian;
Brauner, Barbara;
Dunger, Irmtraud;
Fobo, Gisela;
Frishman, Goar;
Montrone, Corinna;
Mewes, H.-Werner;
Arnold, Matthias;
Ruepp, Andreas

Publication type:

journal article

An overview of the impact of rare disease characteristics on research methodology.

Published in:

2018

By:

Whicher, Danielle;
Philbin, Sarah;
Aronson, Naomi

Publication type:

journal article

The progression rate of spinocerebellar ataxia type 2 changes with stage of disease.

Published in:

2018

By:

Monte, Thais Lampert;
Reckziegel, Estela da Rosa;
Augustin, Marina Coutinho;
Locks-Coelho, Lucas D.;
Santos, Amanda Senna P.;
Furtado, Gabriel Vasata;
de Mattos, Eduardo Preusser;
Pedroso, José Luiz;
Barsottini, Orlando Póvoas;
Vargas, Fernando Regla;
Saraiva-Pereira, Maria-Luiza;
Camey, Suzi Alves;
Leotti, Vanessa Bielefeldt;
Jardim, Laura Bannach;
Rede Neurogenética

Publication type:

journal article

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases.

Published in:

2018

By:

Stein, Susan;
Bogard, Elizabeth;
Boice, Nicole;
Fernandez, Vivian;
Field, Tessa;
Gilstrap, Alan;
Kahn, Susan R.;
Larkindale, Jane;
Mathieson, Toni

Publication type:

journal article

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Published in:

2018

By:

Becerra-Muñoz, Víctor Manuel;
Gómez-Doblas, Juan José;
Porras-Martín, Carlos;
Such-Martínez, Miguel;
Crespo-Leiro, María Generosa;
Barriales-Villa, Roberto;
de Teresa-Galván, Eduardo;
Jiménez-Navarro, Manuel;
Cabrera-Bueno, Fernando

Publication type:

journal article

Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.

Published in:

2018

By:

Jin, Zhili;
Wang, Yini;
Wang, Jingshi;
Zhang, Jia;
Wu, Lin;
Gao, Zhuo;
Lai, Wenyuan;
Wang, Zhao

Publication type:

journal article

International practices in the dietary management of fructose 1-6 biphosphatase deficiency.

Published in:

2018

By:

Pinto, A.;
Alfadhel, M.;
Akroyd, R.;
Atik Altınok, Y.;
Bernabei, S. M.;
Bernstein, L.;
Bruni, G.;
Caine, G.;
Cameron, E.;
Carruthers, R.;
Cochrane, B.;
Daly, A.;
de Boer, F.;
Delaunay, S.;
Dianin, A.;
Dixon, M.;
Drogari, E.;
Dubois, S.;
Evans, S.;
Gribben, J.

Publication type:

journal article

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

Published in:

2018

By:

Sekijima, Yoshiki;
Ueda, Mitsuharu;
Koike, Haruki;
Misawa, Sonoko;
Ishii, Tomonori;
Ando, Yukio

Publication type:

journal article

Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study.

Published in:

2018

By:

Leppävirta, Jussi;
Kallionpää, Roope A.;
Uusitalo, Elina;
Vahlberg, Tero;
Pöyhönen, Minna;
Peltonen, Juha;
Peltonen, Sirkku

Publication type:

journal article

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.

Published in:

2018

By:

Vajro, Pietro;
Zielinska, Katarzyna;
Ng, Bobby G.;
Maccarana, Marco;
Bengtson, Per;
Poeta, Marco;
Mandato, Claudia;
D'Acunto, Elisa;
Freeze, Hudson H.;
Eklund, Erik A.

Publication type:

journal article

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.

Published in:

2018

By:

Downs, Jenny;
Rodger, Jenny;
Li, Chen;
Tan, Xuesong;
Hu, Nan;
Wong, Kingsley;
de Klerk, Nicholas;
Leonard, Helen

Publication type:

journal article

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.

Published in:

2018

By:

Kuiper, Gé-Ann;
Meijer, Olga L. M.;
Langereis, Eveline J.;
Wijburg, Frits A.

Publication type:

journal article

Compounded medication for patients with rare diseases.

Published in:

2018

By:

Dooms, Marc;
Carvalho, Maria

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

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

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

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

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

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

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

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

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

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

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

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

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