Works matching IS 17501172 AND DT 2021

Results: 555

A systematic review of moral reasons on orphan drug reimbursement.

Published in:

2021

By:

Zimmermann, Bettina M.;
Eichinger, Johanna;
Baumgartner, Matthias R.

Publication type:

journal article

Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.

Published in:

2021

By:

Mendoza-Caamal, Elvia C.;
Barajas-Olmos, Francisco;
Mirzaeicheshmeh, Elaheh;
Ilizaliturri-Flores, Ian;
Aguilar-Salinas, Carlos A.;
Gómez-Velasco, Donaji V.;
Cicerón-Arellano, Isabel;
Reséndiz-Rodríguez, Adriana;
Martínez-Hernández, Angélica;
Contreras-Cubas, Cecilia;
Islas-Andrade, Sergio;
Zerrweck, Carlos;
García-Ortiz, Humberto;
Orozco, Lorena

Publication type:

journal article

Metabolic and immunological phenotype of rare lipomatoses: Dercum's disease and Roch-Leri mesosomatic lipomatosis.

Published in:

2021

By:

Lemaitre, Madleen;
Chevalier, Benjamin;
Jannin, Arnaud;
Le Mapihan, Kristell;
Boury, Samuel;
Lion, Georges;
Labalette, Myriam;
Vantyghem, Marie-Christine

Publication type:

journal article

Which triggers could support timely identification of primary antibody deficiency? A qualitative study using the patient perspective.

Published in:

2021

By:

Janssen, Lisanne M. A.;
van den Akker, Kim;
Boussihmad, Mohamed A.;
de Vries, Esther

Publication type:

journal article

Gene expression analysis in EBV-infected ataxia-telangiectasia cell lines by RNA-sequencing reveals protein synthesis defect and immune abnormalities.

Published in:

2021

By:

Tatfi, Moussab;
Perthame, Emeline;
Hillion, Kenzo-Hugo;
Dillies, Marie-Agnès;
Menager, Hervé;
Hermine, Olivier;
Suarez, Felipe

Publication type:

journal article

Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

Published in:

2021

By:

Chi, Young-In;
Stodola, Timothy J.;
De Assuncao, Thiago M.;
Leverence, Elise N.;
Tripathi, Swarnendu;
Dsouza, Nikita R.;
Mathison, Angela J.;
Basel, Donald G.;
Volkman, Brian F.;
Smith, Brian C.;
Lomberk, Gwen;
Zimmermann, Michael T.;
Urrutia, Raul

Publication type:

Correction Notice

Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-01692-w

By:

Chi, Young-In;
Stodola, Timothy J.;
De Assuncao, Thiago M.;
Leverence, Elise N.;
Tripathi, Swarnendu;
Dsouza, Nikita R.;
Mathison, Angela J.;
Basel, Donald G.;
Volkman, Brian F.;
Smith, Brian C.;
Lomberk, Gwen;
Zimmermann, Michael T.;
Urrutia, Raul

Publication type:

Article

Factor VIII replacement prophylaxis in patients with hemophilia A transitioning to adults: a systematic literature review.

Published in:

2021

By:

Sun, Jing;
Zhou, Xuan;
Hu, Nan

Publication type:

journal article

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.

Published in:

2021

By:

Bukowska-Olech, Ewelina;
Gawliński, Paweł;
Jakubiuk-Tomaszuk, Anna;
Jędrzejowska, Maria;
Obersztyn, Ewa;
Piechota, Michał;
Bielska, Marta;
Jamsheer, Aleksander

Publication type:

journal article

Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease.

Published in:

2021

By:

Hamed, Alaa;
DasMahapatra, Pronabesh;
Lyn, Nicole;
Gwaltney, Chad;
Hopkin, Robert J.

Publication type:

journal article

Causative variant profile of collagen VI-related dystrophy in Japan.

Published in:

2021

By:

Inoue, Michio;
Saito, Yoshihiko;
Yonekawa, Takahiro;
Ogawa, Megumu;
Iida, Aritoshi;
Nishino, Ichizo;
Noguchi, Satoru

Publication type:

journal article

Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands.

Published in:

2021

By:

Kerstens, Hans C. J. W.;
Van Lith, Bas J. H.;
Nijkrake, Maarten J.;
De Swart, Bert J. M.;
Van den Bemd, Laura A. C.;
Smeets, Rob J. E. M.;
Klemens, Fheodoroff;
Van de Warrenburg, Bart P. C.;
Van der Wees, Philip J.;
Geurts, Alexander C. H.

Publication type:

journal article

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.

Published in:

2021

By:

Grau, Janina;
Zöllner, Johann Philipp;
Schubert-Bast, Susanne;
Kurlemann, Gerhard;
Hertzberg, Christoph;
Wiemer-Kruel, Adelheid;
Bast, Thomas;
Bertsche, Astrid;
Bettendorf, Ulrich;
Fiedler, Barbara;
Hahn, Andreas;
Hartmann, Hans;
Hornemann, Frauke;
Immisch, Ilka;
Jacobs, Julia;
Kieslich, Matthias;
Klein, Karl Martin;
Klotz, Kerstin A.;
Kluger, Gerhard;
Knuf, Markus

Publication type:

journal article

Hemophagocytic lymphohistiocytosis during pregnancy: a review of the literature in epidemiology, pathogenesis, diagnosis and treatment.

Published in:

2021

By:

Liu, Lidong;
Cui, Yutong;
Zhou, Qiongjie;
Zhao, Huanqiang;
Li, Xiaotian

Publication type:

journal article

Reducing the diagnostic delay in Antiphospholipid Syndrome over time: a real world observation.

Published in:

2021

By:

Radin, Massimo;
Foddai, Silvia Grazietta;
Barinotti, Alice;
Cecchi, Irene;
Rubini, Elena;
Sciascia, Savino;
Roccatello, Dario

Publication type:

journal article

<sup>68</sup>Ga-NOTA-Evans Blue PET/CT findings in lymphangioleiomyomatosis compared with <sup>99m</sup>TC-ASC lymphoscintigraphy: a prospective study.

Published in:

2021

By:

Hou, Guozhu;
Jiang, Yuanyuan;
Xu, Wenshuai;
Zhu, Zhaohui;
Huo, Li;
Chen, Xiaoyuan;
Li, Fang;
Xu, Kai-Feng;
Cheng, Wuying

Publication type:

journal article

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.

Published in:

2021

By:

Shen, Ren-Juan;
Wang, Jun-Gang;
Li, Yang;
Jin, Zi-Bing

Publication type:

journal article

Sequential everolimus for angiomyolipoma associated with tuberous sclerosis complex: a prospective cohort study.

Published in:

2021

By:

Gu, Liangyou;
Peng, Cheng;
Zhang, Fan;
Fang, Cunjin;
Guo, Gang

Publication type:

journal article

Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome.

Published in:

2021

By:

Pomeroy, Jeremy;
VanWormer, Jeffrey J.;
Meilahn, Jill R.;
Maki, Tara;
Murali, Hema R.;
Haws, Robert M.

Publication type:

journal article

Survival of patients with rare diseases: a population-based study in Tuscany (Italy).

Published in:

2021

By:

Gorini, Francesca;
Coi, Alessio;
Mezzasalma, Lorena;
Baldacci, Silvia;
Pierini, Anna;
Santoro, Michele

Publication type:

journal article

Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study.

Published in:

2021

By:

Zhang, Jiao;
Cui, Xulei;
Chen, Si;
Dai, Yi;
Huang, Yuguang;
Zhang, Shuyang

Publication type:

journal article

The etiology of diffuse cystic lung diseases: an analysis of 1010 consecutive cases in a LAM clinic.

Published in:

2021

By:

Cui, Han;
Cheng, Chongsheng;
Xu, Wenshuai;
Tian, Xinlun;
Yang, Yanli;
Wang, Yani;
Huang, Jiannan;
He, Yudi;
Wang, Jun;
Feng, Ruie;
Zhang, Weihong;
Xu, Kai-Feng

Publication type:

journal article

Frequency detection of BRAF V600E mutation in a cohort of pediatric langerhans cell histiocytosis patients by next-generation sequencing.

Published in:

2021

By:

Feng, Shunqiao;
Han, Lin;
Yue, Mei;
Zhong, Dixiao;
Cao, Jing;
Guo, Yibing;
Sun, Yanling;
Zhang, Hao;
Cao, Zhenhua;
Cui, Xiaodai;
Liu, Rong

Publication type:

journal article

Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care.

Published in:

2021

By:

Marro, M.;
De Smet, S.;
Caldari, D.;
Lambe, C.;
Leclerc-Mercier, S.;
Chiaverini, C.

Publication type:

Letter

Dual inhibition of complement component 5 and leukotriene B4 by topical rVA576 in atopic keratoconjunctivis: TRACKER phase 1 clinical trial results.

Published in:

2021

By:

Sánchez-Tabernero, Sara;
Fajardo-Sanchez, Julia;
Weston-Davies, Wynne;
Parekh, Mohit;
Kriman, Jaime;
Kaye, Stephen;
Ahmad, Sajjad

Publication type:

clinical trial

Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.

Published in:

2021

By:

González-Moreno, Juan;
Gaya-Barroso, Aina;
Losada-López, Inés;
Rodríguez, Adrián;
Bosch-Rovira, Teresa;
Ripoll-Vera, Tomás;
Usón, Mercedes;
Figuerola, Antoni;
Descals, Cristina;
Montalà, Carles;
Ferrer-Nadal, María Asunción;
Cisneros-Barroso, Eugenia

Publication type:

journal article

Outcome of L-DEP regimen for treatment of pediatric chronic active Epstein-Barr virus infection.

Published in:

2021

By:

Ma, Honghao;
Zhang, Liping;
Wei, Ang;
Yang, Jun;
Wang, Dong;
Zhang, Qing;
Zhao, Yunze;
Chen, Sitong;
Lian, Hongyun;
Zhang, Li;
Zhou, Chunju;
Qin, Maoquan;
Li, Zhigang;
Wang, Tianyou;
Zhang, Rui

Publication type:

journal article

Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1.

Published in:

2021

By:

Cheng, Yiping;
Chen, Jing;
Zhou, Xinli;
Yang, Jiangfei;
Ji, Yiming;
Xu, Chao

Publication type:

journal article

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Published in:

2021

By:

Brouillard, Pascal;
Schlögel, Matthieu J.;
Homayun Sepehr, Nassim;
Helaers, Raphaël;
Queisser, Angela;
Fastré, Elodie;
Boutry, Simon;
Schmitz, Sandra;
Clapuyt, Philippe;
Hammer, Frank;
Dompmartin, Anne;
Weitz-Tuoretmaa, Annamaria;
Laranne, Jussi;
Pasquesoone, Louise;
Vilain, Catheline;
Boon, Laurence M.;
Vikkula, Miikka

Publication type:

journal article

Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-onset diseases.

Published in:

2021

By:

Miller, Kathleen L.;
Fermaglich, Lewis J.;
Maynard, Janet

Publication type:

journal article

Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults.

Published in:

2021

By:

Gwaltney, Chad;
Stokes, Jonathan;
Aiudi, Anthony;
Mazar, Iyar;
Ollis, Sarah;
Love, Emily;
Shields, Alan

Publication type:

journal article

Deliberate paradigm shift in research in rare neurodevelopmental disorders.

Published in:

2021

By:

Bain, Jennifer M.;
Ardalan, Adel;
Goldman, Sylvie

Publication type:

Letter

Delayed diagnosis of Peutz-Jeghers syndrome due to pathological information loss or mistake in family/personal history.

Published in:

2021

By:

Jiang, Yu-Liang;
Xu, Xiao-Dong;
Li, Bai-Rong;
Yu, En-Da;
Zhao, Zi-Ye;
Liu, Hong

Publication type:

journal article

Sirolimus in the treatment of kaposiform lymphangiomatosis.

Published in:

2021

By:

Zhou, Jiangyuan;
Yang, Kaiying;
Chen, Siyuan;
Ji, Yi

Publication type:

journal article

Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Published in:

2021

By:

Ma, Peipei;
Zhang, Shu;
Zhang, Hao;
Fang, Siying;
Dong, Yuru;
Zhang, Yan;
Hao, Weiwei;
Wu, Shiwen;
Zhao, Yuying

Publication type:

corrected article

Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai.

Published in:

2021

By:

Cai, Xiaoshu;
Genchev, Georgi Z.;
He, Ping;
Lu, Hui;
Yu, Guangjun

Publication type:

journal article

Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies.

Published in:

2021

By:

Zhu, Ying;
Wang, Ruyi;
Cheng, Yun;
Han, Yang;
Li, Tengyan;
Cao, Yunxia;
Wang, Binbin

Publication type:

journal article

Maternal bile acid profile and subtype analysis of intrahepatic cholestasis of pregnancy.

Published in:

2021

By:

Shao, Yong;
Chen, Siyu;
Li, Huan;
Tang, Qin;
Xu, Di

Publication type:

journal article

RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy.

Published in:

2021

By:

Sodi, Andrea;
Banfi, Sandro;
Testa, Francesco;
Della Corte, Michele;
Passerini, Ilaria;
Pelo, Elisabetta;
Rossi, Settimio;
Simonelli, Francesca;
Italian IRD Working Group

Publication type:

journal article

Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.

Published in:

2021

By:

Jones-Hughes, Tracey;
Campbell, Jo;
Crathorne, Louise

Publication type:

journal article

Treatment adherence in tyrosinemia type 1 patients.

Published in:

2021

By:

González-Lamuño, Domingo;
Sánchez-Pintos, Paula;
Andrade, Fernando;
Couce, María L.;
Aldámiz-Echevarría, Luís

Publication type:

journal article

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.

Published in:

2021

By:

Monteiro, Vaneisse C. L.;
de Oliveira, Bibiana M.;
dos Santos, Bruna B.;
Sperb-Ludwig, Fernanda;
Refosco, Lilia F.;
Nalin, Tatiele;
Derks, Terry G. J.;
Moura de Souza, Carolina F.;
Schwartz, Ida V. D.

Publication type:

journal article

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.

Published in:

2021

By:

Foreman, Pamela K.;
Margulis, Andrea V.;
Alexander, Kimberly;
Shediac, Renee;
Calingaert, Brian;
Harding, Abenah;
Pladevall-Vila, Manel;
Landis, Sarah

Publication type:

journal article

The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results.

Published in:

2021

By:

Bassanese, Giulia;
Wlodkowski, Tanja;
Servais, Aude;
Heidet, Laurence;
Roccatello, Dario;
Emma, Francesco;
Levtchenko, Elena;
Ariceta, Gema;
Bacchetta, Justine;
Capasso, Giovambattista;
Jankauskiene, Augustina;
Miglinas, Marius;
Ferraro, Pietro Manuel;
Montini, Giovanni;
Oh, Jun;
Decramer, Stephane;
Levart, Tanja Kersnik;
Wetzels, Jack;
Cornelissen, Elisabeth;
Devuyst, Olivier

Publication type:

journal article

Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.

Published in:

2021

By:

Mengel, Eugen;
Bembi, Bruno;
del Toro, Mireia;
Deodato, Federica;
Gautschi, Matthias;
Grunewald, Stephanie;
Grønborg, Sabine;
Héron, Bénédicte;
Maier, Esther M.;
Roubertie, Agathe;
Santra, Saikat;
Tylki-Szymanska, Anna;
Day, Simon;
Symonds, Tara;
Hudgens, Stacie;
Patterson, Marc C.;
Guldberg, Christina;
Ingemann, Linda;
Petersen, Nikolaj H. T.;
Kirkegaard, Thomas

Publication type:

corrected article

Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Published in:

2021

By:

Ma, Peipei;
Zhang, Shu;
Zhang, Hao;
Fang, Siying;
Dong, Yuru;
Zhang, Yan;
Hao, Weiwei;
Wu, Shiwen;
Zhao, Yuying

Publication type:

Correction Notice

Growth in ataxia telangiectasia.

Published in:

2021

By:

Natale, Valerie A. I.;
Cole, Tim J.;
Rothblum-Oviatt, Cynthia;
Wright, Jennifer;
Crawford, Thomas O.;
Lefton-Greif, Maureen A.;
McGrath-Morrow, Sharon A.;
Schlechter, Haley;
Lederman, Howard M.

Publication type:

journal article

Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

Published in:

2021

By:

Chi, Young-In;
Stodola, Timothy J.;
De Assuncao, Thiago M.;
Levrence, Elise N.;
Tripathi, Swarnendu;
Dsouza, Nikita R.;
Mathison, Angela J.;
Basel, Donald G.;
Volkman, Brian F.;
Smith, Brian C.;
Lomberk, Gwen;
Zimmermann, Michael T.;
Urrutia, Raul;
Leverence, Elise N

Publication type:

corrected article

Correction to: Growth in ataxia telangiectasia.

Published in:

2021

By:

Natale, Valerie A. I.;
Cole, Tim J.;
Rothblum-Oviatt, Cynthia;
Wright, Jennifer;
Crawford, Thomas O.;
Lefton-Greif, Maureen A.;
McGrath-Morrow, Sharon A.;
Schlechter, Haley;
Lederman, Howard M.

Publication type:

corrected article

Differences in health care experiences between rare cancer and common cancer patients: results from a national cross-sectional survey.

Published in:

2021

By:

de Heus, Eline;
Engelen, Vivian;
Dingemans, Irene;
Richel, Carol;
Schrieks, Marga;
van der Zwan, Jan Maarten;
Besselink, Marc G.;
van Berge Henegouwen, Mark I.;
van Herpen, Carla M. L.;
Duijts, Saskia F. A.

Publication type:

journal article