Works matching IS 17501172 AND DT 2021 AND VI 16

Results: 549

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