Works matching IS 17501172 AND DT 2020 AND VI 15 AND IP 1

Results: 350

Cardiovascular progenitor cells and tissue plasticity are reduced in a myocardium affected by Becker muscular dystrophy.

Published in:

2020

By:

Pesl, Martin;
Jelinkova, Sarka;
Caluori, Guido;
Holicka, Maria;
Krejci, Jan;
Nemec, Petr;
Kohutova, Aneta;
Zampachova, Vita;
Dvorak, Petr;
Rotrekl, Vladimir

Publication type:

journal article

Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands.

Published in:

2020

By:

van Lith, Bas J. H.;
Kerstens, Hans C. J. W.;
van den Bemd, Laura A. C.;
der Sanden, Maria W. G. Nijhuis-van;
Weerdesteyn, Vivian;
Smeets, Rob J. E. M.;
Fheodoroff, Klemens;
van de Warrenburg, Bart P. C.;
Geurts, Alexander C. H.

Publication type:

journal article

Gender differences in hereditary hemorrhagic telangiectasia severity.

Published in:

2020

By:

Mora-Luján, J. M.;
Iriarte, A.;
Alba, E.;
Sánchez-Corral, M. A.;
Cerdà, P.;
Cruellas, F.;
Ordi, Q.;
Corbella, X.;
Ribas, J.;
Castellote, J.;
Riera-Mestre, A.

Publication type:

journal article

Combined surgery with 3-in-1 osteosynthesis in congenital pseudarthrosis of the tibia with intact fibula.

Published in:

2020

By:

Liu, Yaoxi;
Yang, Ge;
Liu, Kun;
Wu, Jiangyan;
Zhu, Guanghui;
Tang, Jin;
Zheng, Yu;
Mei, Haibo

Publication type:

journal article

Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.

Published in:

2020

By:

Cannet, Claire;
Pilotto, Andrea;
Rocha, Júlio César;
Schäfer, Hartmut;
Spraul, Manfred;
Berg, Daniela;
Nawroth, Peter;
Kasperk, Christian;
Gramer, Gwendolyn;
Haas, Dorothea;
Piel, David;
Kölker, Stefan;
Hoffmann, Georg;
Freisinger, Peter;
Trefz, Friedrich

Publication type:

journal article

A civil society view of rare disease public policy in six Latin American countries.

Published in:

2020

By:

Mayrides, Mo;
Ruiz de Castilla, Eva Maria;
Szelepski, Silvina

Publication type:

journal article

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.

Published in:

2020

By:

Pritchard, Amanda Barone;
Strong, Alanna;
Ficicioglu, Can

Publication type:

journal article

Taste and smell function in Wolfram syndrome.

Published in:

2020

By:

Alfaro, Raul;
Doty, Tasha;
Narayanan, Anagha;
Lugar, Heather;
Hershey, Tamara;
Pepino, M. Yanina

Publication type:

journal article

Equivocal expression of emotions in children with Prader-Willi syndrome: what are the consequences for emotional abilities and social adjustment?

Published in:

2020

By:

Famelart, Nawelle;
Diene, Gwenaelle;
Çabal-Berthoumieu, Sophie;
Glattard, Mélanie;
Molinas, Catherine;
Guidetti, Michèle;
Tauber, Maithe

Publication type:

journal article

Lack of knowledge and misperceptions about thalassaemia among college students in Bangladesh: a cross-sectional baseline study.

Published in:

2020

By:

Hossain, Mohammad Sorowar;
Hasan, Md. Mahbub;
Raheem, Enayetur;
Islam, Muhammad Sougatul;
Al Mosabbir, Abdullah;
Petrou, Mary;
Telfer, Paul;
Siddiqee, Mahbubul H.

Publication type:

journal article

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.

Published in:

2020

By:

Baravelli, Carl Michael;
Aarsand, Aasne Karine;
Sandberg, Sverre;
Tollånes, Mette Christophersen

Publication type:

journal article

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders.

Published in:

2020

By:

Bhattacharya, Kaustuv;
Matar, Walid;
Tolun, Adviye Ayper;
Devanapalli, Beena;
Thompson, Sue;
Dalkeith, Troy;
Lichkus, Kate;
Tchan, Michel

Publication type:

journal article

Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene.

Published in:

2020

By:

Bork, Konrad;
Wulff, Karin;
Witzke, Guenther;
Machnig, Thomas;
Hardt, Jochen

Publication type:

journal article

Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

Published in:

2020

By:

Tornero, C.;
Navarro-Compán, V.;
Tenorio, J. A.;
García-Carazo, S.;
Buño, A.;
Monjo, I.;
Plasencia-Rodriguez, C.;
Iturzaeta, J. M.;
Lapunzina, P.;
Heath, K. E.;
Balsa, A.;
Aguado, P.

Publication type:

journal article

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.

Published in:

2020

By:

Grünert, Sarah C.;
Sass, Jörn Oliver

Publication type:

journal article

The effect of human gene therapy for RPE65-associated Leber's congenital amaurosis on visual function: a systematic review and meta-analysis.

Published in:

2020

By:

Wang, Xue;
Yu, Chaofeng;
Tzekov, Radouil T.;
Zhu, Yihua;
Li, Wensheng

Publication type:

journal article

Adverse event rates and economic burden associated with purine nucleoside analogs in patients with hairy cell leukemia: a US population-retrospective claims analysis.

Published in:

2020

By:

Epperla, Narendranath;
Pavilack, Melissa;
Olufade, Temitope;
Bashyal, Richa;
Li, Jieni;
Kabadi, Shaum M.;
Yuce, Huseyin;
Andritsos, Leslie

Publication type:

journal article

Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.

Published in:

2020

By:

Spiga, Ottavia;
Cicaloni, Vittoria;
Fiorini, Cosimo;
Trezza, Alfonso;
Visibelli, Anna;
Millucci, Lia;
Bernardini, Giulia;
Bernini, Andrea;
Marzocchi, Barbara;
Braconi, Daniela;
Prischi, Filippo;
Santucci, Annalisa

Publication type:

journal article

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.

Published in:

2020

By:

Kim, Yoo-Mi;
Choi, Jin-Ho;
Lee, Beom-Hee;
Kim, Gu-Hwan;
Kim, Kyung-Mo;
Yoo, Han-Wook

Publication type:

journal article

Oral disorders in children with Prader-Willi syndrome: a case control study.

Published in:

2020

By:

Munné-Miralvés, Carla;
Brunet-Llobet, Lluís;
Cahuana-Cárdenas, Abel;
Torné-Durán, Sergi;
Miranda-Rius, Jaume;
Rivera-Baró, Alejandro

Publication type:

journal article

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Published in:

2020

By:

Urreizti, Roser;
Lopez-Martin, Estrella;
Martinez-Monseny, Antonio;
Pujadas, Montse;
Castilla-Vallmanya, Laura;
Pérez-Jurado, Luis Alberto;
Serrano, Mercedes;
Natera-de Benito, Daniel;
Martínez-Delgado, Beatriz;
Posada-de-la-Paz, Manuel;
Alonso, Javier;
Marin-Reina, Purificación;
O'Callaghan, Mar;
Grinberg, Daniel;
Bermejo-Sánchez, Eva;
Balcells, Susanna

Publication type:

journal article

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Published in:

2020

By:

Welsink-Karssies, Mendy M.;
Oostrom, Kim J.;
Hermans, Merel E.;
Hollak, Carla E. M.;
Janssen, Mirian C. H.;
Langendonk, Janneke G.;
Oussoren, Esmee;
Gozalbo, M. Estela Rubio;
de Vries, Maaike;
Geurtsen, Gert J.;
Bosch, Annet M.;
Rubio Gozalbo, M Estela

Publication type:

journal article

Epidemiological and advanced therapeutic approaches to treatment of uveitis in pediatric rheumatic diseases: a systematic review and meta-analysis.

Published in:

2020

By:

Jari, Mohsen;
Shiari, Reza;
Salehpour, Omid;
Rahmani, Khosro

Publication type:

journal article

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.

Published in:

2020

By:

Carmody, Leigh C.;
Blau, Hannah;
Danis, Daniel;
Zhang, Xingman A.;
Gourdine, Jean-Philippe;
Vasilevsky, Nicole;
Krawitz, Peter;
Thompson, Miles D.;
Robinson, Peter N.

Publication type:

journal article

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Published in:

2020

By:

Chien, Yin-Hsiu;
Lee, Ni-Chung;
Chen, Pin-Wen;
Yeh, Hui-Ying;
Gelb, Michael H.;
Chiu, Pao-Chin;
Chu, Shao-Yin;
Lee, Chen-Hao;
Lee, An-Ru;
Hwu, Wuh-Liang

Publication type:

journal article

Kaposiform hemangioendothelioma: current knowledge and future perspectives.

Published in:

2020

By:

Ji, Yi;
Chen, Siyuan;
Yang, Kaiying;
Xia, Chunchao;
Li, Li

Publication type:

journal article

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966.

Published in:

2020

By:

Bergqvist, Christina;
Servy, Amandine;
Valeyrie-Allanore, Laurence;
Ferkal, Salah;
Combemale, Patrick;
Wolkenstein, Pierre;
NF France Network;
Adamski, Henri;
Baumann-Morel, Clarisse;
Bellanné, Christine;
Bieth, Eric;
Bousquet, Pascal;
Brandt, Christian;
Balguerie, Xavier;
Barbarot, Sébastien;
Castelnau, Pierre;
Chaix, Yves;
Chevrant-Breton, Jacqueline;
Collet, Evelyne;
Cuny, Jean-François

Publication type:

journal article

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

Published in:

2020

By:

Walczak-Sztulpa, Joanna;
Posmyk, Renata;
Bukowska-Olech, Ewelina M.;
Wawrocka, Anna;
Jamsheer, Aleksander;
Oud, Machteld M.;
Schmidts, Miriam;
Arts, Heleen H.;
Latos-Bielenska, Anna;
Wasilewska, Anna

Publication type:

journal article

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).

Published in:

2020

By:

Eghbali, Maryam;
Abiri, Maryam;
Talebi, Saeed;
Noroozi, Zahra;
Shakiba, Marjan;
Rostami, Parastoo;
Alimadadi, Hosein;
Najafi, Mehri;
Yazarlou, Fatemeh;
Rabbani, Ali;
Modarressi, Mohammad Hossein

Publication type:

journal article

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.

Published in:

2020

By:

Cho, Ahra;
Lima de Carvalho, Jose Ronaldo;
Tanaka, Akemi J.;
Jauregui, Ruben;
Levi, Sarah R.;
Bassuk, Alexander G.;
Mahajan, Vinit B.;
Tsang, Stephen H.;
Lima de Carvalho, Jose Ronaldo Jr

Publication type:

journal article

Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population.

Published in:

2020

By:

Jercan, Andreea;
Ene, Amalia;
Jurcut, Ruxandra;
Draghici, Mirela;
Badelita, Sorina;
Dragomir, Mihaela;
Dobrea, Camelia;
Popescu, Monica;
Jardan, Dumitru;
Stoica, Emanuel;
Iacob, Speranta;
Codita, Ionela;
Stan, Claudiu;
Coriu, Daniel

Publication type:

journal article

Towards European harmonisation of healthcare for patients with rare immune disorders: outcome from the ERN RITA registries survey.

Published in:

2020

By:

Papa, Riccardo;
Cant, Andrew;
Klein, Christoph;
Little, Mark A.;
Wulffraat, Nico M.;
Gattorno, Marco;
Ruperto, Nicolino;
ERN RITA Council

Publication type:

Letter

Molecular basis of Leigh syndrome: a current look.

Published in:

2020

By:

Schubert, Manuela Baldo;
Vilarinho, Laura;
Schubert Baldo, Manuela

Publication type:

journal article

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Published in:

2020

By:

Varela, Patrícia;
Mastroianni Kirsztajn, Gianna;
Motta, Fabiana L.;
Martin, Renan P.;
Turaça, Lauro T.;
Ferrer, Henrique L. F.;
Gomes, Caio P.;
Nicolicht, Priscila;
Mara Marins, Maryana;
Pessoa, Juliana G.;
Braga, Marion C.;
D'Almeida, Vânia;
Martins, Ana Maria;
Pesquero, João B.

Publication type:

journal article

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Published in:

2020

By:

Yu, Xiaoyu;
Lin, Yun;
Xu, Jun;
Che, Tuanjie;
Li, Lin;
Yang, Tao;
Wu, Hao

Publication type:

journal article

Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain.

Published in:

2020

By:

Körver, Simon;
Geurtsen, Gert J.;
Hollak, Carla E. M.;
van Schaik, Ivo N.;
Longo, Maria G. F.;
Lima, Marjana R.;
Vedolin, Leonardo;
Dijkgraaf, Marcel G. W.;
Langeveld, Mirjam

Publication type:

journal article

Comparison of liver MRI R2(FerriScan®) VS liver MRI T2* as a measure of body iron load in a cohort of beta thalassaemia major patients.

Published in:

2020

By:

Padeniya, Padmapani;
Siriwardana, Shirom;
Ediriweera, Dileepa;
Samarasinghe, Nayana;
Silva, Sasanka;
Silva, Ishari;
Ahamed, Nizri;
Niriella, Madunil;
Premawardhena, Anuja

Publication type:

Letter

Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria.

Published in:

2020

By:

Tucci, Sara

Publication type:

Letter

Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age.

Published in:

2020

By:

Tang, Xiaolei;
Li, Huimin;
Liu, Hui;
Xu, Hui;
Yang, Haiming;
Liu, Jinrong;
Zhao, Shunying

Publication type:

journal article

Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.

Published in:

2020

By:

Yang, Lili;
Zhou, Qiong;
Ma, Bo;
Mao, Shujiong;
Dai, Yanli;
Zhu, Mingqiang;
Zou, Chaochun

Publication type:

journal article

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).

Published in:

2020

By:

Zöllner, Johann Philipp;
Franz, David Neal;
Hertzberg, Christoph;
Nabbout, Rima;
Rosenow, Felix;
Sauter, Matthias;
Schubert-Bast, Susanne;
Wiemer-Kruel, Adelheid;
Strzelczyk, Adam

Publication type:

journal article

Asymptomatic intracranial aneurysms in beta-thalassemia: a three-year follow-up report.

Published in:

2020

By:

Manara, Renzo;
Caiazza, Martina;
Di Concilio, Rosanna;
Ciancio, Angela;
De Michele, Elisa;
Maietta, Caterina;
Capalbo, Daniela;
Russo, Camilla;
Roberti, Domenico;
Casale, Maddalena;
Elefante, Andrea;
Esposito, Fabrizio;
Ponticorvo, Sara;
Russo, Andrea Gerardo;
Canna, Antonietta;
Cirillo, Mario;
Perrotta, Silverio;
Tartaglione, Immacolata

Publication type:

journal article

A study of voice and non-voice processing in Prader-Willi syndrome.

Published in:

2020

By:

Strenilkov, Kuzma;
Debladis, Jimmy;
Salles, Juliette;
Valette, Marion;
Mantoulan, Carine;
Thuilleaux, Denise;
Laurier, Virginie;
Molinas, Catherine;
Barone, Pascal;
Tauber, Maïthé

Publication type:

journal article

Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.

Published in:

2020

By:

Schmidt, Eeva-Kaisa;
Mustonen, Tuuli;
Kiuru-Enari, Sari;
Kivelä, Tero T.;
Atula, Sari

Publication type:

journal article

Education and information needs for physicians about rare diseases in Spain.

Published in:

2020

By:

Ramalle-Gómara, Enrique;
Domínguez-Garrido, Elena;
Gómez-Eguílaz, María;
Marzo-Sola, María Eugenia;
Ramón-Trapero, José Luis;
Gil-de-Gómez, Josefa

Publication type:

journal article

Evaluation of retinal microvascular perfusion in hereditary angioedema: a case-control study.

Published in:

2020

By:

Triggianese, Paola;
Cesareo, Massimo;
Guarino, Maria Domenica;
Conigliaro, Paola;
Chimenti, Maria Sole;
Cedola, Francesca;
Mazzeo, Caterina;
Nucci, Carlo;
Perricone, Roberto

Publication type:

Letter

European lipodystrophy registry: background and structure.

Published in:

2020

By:

von Schnurbein, Julia;
Adams, Claire;
Akinci, Baris;
Ceccarini, Giovanni;
D'Apice, Maria Rosaria;
Gambineri, Alessandra;
Hennekam, Raoul C. M.;
Jeru, Isabelle;
Lattanzi, Giovanna;
Miehle, Konstanze;
Nagel, Gabriele;
Novelli, Giuseppe;
Santini, Ferruccio;
Santos Silva, Ermelinda;
Savage, David B.;
Sbraccia, Paolo;
Schaaf, Jannik;
Sorkina, Ekaterina;
Tanteles, George;
Vantyghem, Marie-Christine

Publication type:

journal article

Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.

Published in:

2020

By:

Noor, Farjana Akther;
Sultana, Nusrat;
Bhuyan, Golam Sarower;
Islam, Md Tarikul;
Hossain, Mohabbat;
Sarker, Suprovath Kumar;
Islam, Khaleda;
Khan, Waqar Ahmed;
Rahman, Mujahida;
Qadri, Syeda Kashfi;
Shekhar, Hossain Uddin;
Qadri, Firdausi;
Qadri, Syed Saleheen;
Mannoor, Kaiissar

Publication type:

journal article

Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe: the European Reference Network TransplantChild.

Published in:

2020

By:

Jara, P.;
Baker, A.;
Baumann, U.;
Borobia, A. M.;
Branchereu, S.;
Candusso, M.;
Carcas, A. J.;
Chardot, C.;
Cobas, J.;
D'Antiga, L.;
Ferreras, C.;
Fitzpatrick, E.;
Frauca, E.;
Hernández-Oliveros, F.;
Kaliciński, P.;
Lindemans, C.;
Lopes, M. F.;
López-Granados, E.;
de Magnée, C.;
Mota, C.

Publication type:

journal article

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.

Published in:

2020

By:

Mojbafan, Marzieh;
Bahmani, Reza;
Bagheri, Samira Dabbagh;
Sharifi, Zohreh;
Zeinali, Sirous

Publication type:

journal article