Works matching IS 17501172 AND DT 2021 AND VI 16 AND IP 1

Results: 543

Childhood rare diseases and the UN convention on the rights of the child.

Published in:

2021

By:

Matthews, Lisa;
Chin, Vaughan;
Taliangis, Marisa;
Samanek, Amanda;
Baynam, Gareth

Publication type:

Letter

Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre.

Published in:

2021

By:

Altman, George;
Hussain, Kamran;
Green, Diane;
Strauss, Boyd J. G.;
Wilcox, Gisela

Publication type:

journal article

Clinical, humanistic, and economic burden of severe haemophilia B in adults receiving factor IX prophylaxis: findings from the CHESS II real-world burden of illness study in Europe.

Published in:

2021

By:

Burke, Tom;
Asghar, Sohaib;
O'Hara, Jamie;
Chuang, Margaret;
Sawyer, Eileen K.;
Li, Nanxin

Publication type:

journal article

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Published in:

2021

By:

Phetthong, Tim;
Tim-Aroon, Thipwimol;
Khongkraparn, Arthaporn;
Noojarern, Saisuda;
Kuptanon, Chulaluck;
Wichajarn, Khunton;
Sathienkijkanchai, Achara;
Suphapeetiporn, Kanya;
Charoenkwan, Pimlak;
Tantiworawit, Adisak;
Noentong, Naruwan;
Wattanasirichaigoon, Duangrurdee

Publication type:

journal article

A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm.

Published in:

2021

By:

Jefferies, John L.;
Spencer, Alison K.;
Lau, Heather A.;
Nelson, Matthew W.;
Giuliano, Joseph D.;
Zabinski, Joseph W.;
Boussios, Costas;
Curhan, Gary;
Gliklich, Richard E.;
Warnock, David G.

Publication type:

journal article

Effects of socio-economic factors on research over systemic sclerosis: an analysis based on long time series of bibliometric data.

Published in:

2021

By:

Guo, Wei;
Zhou, Zeyu;
Liang, Yinhe;
Xu, Chuanhui;
Zeng, Lin;
Dong, Zhiyong;
Mu, Rong

Publication type:

journal article

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.

Published in:

2021

By:

Hoover-Fong, Julie E.;
Schulze, Kerry J.;
Alade, Adekemi Y.;
Bober, Michael B.;
Gough, Ethan;
Hashmi, S. Shahrukh;
Hecht, Jacqueline T.;
Legare, Janet M.;
Little, Mary Ellen;
Modaff, Peggy;
Pauli, Richard M.;
Rodriguez-Buritica, David F.;
Serna, Maria E.;
Smid, Cory;
Liu, Chengxin;
McGready, John

Publication type:

journal article

Current status of newborn screening for Pompe disease in Japan.

Published in:

2021

By:

Sawada, Takaaki;
Kido, Jun;
Sugawara, Keishin;
Momosaki, Ken;
Yoshida, Shinichiro;
Kojima-Ishii, Kanako;
Inoue, Takahito;
Matsumoto, Shirou;
Endo, Fumio;
Ohga, Shouichi;
Hirose, Shinichi;
Nakamura, Kimitoshi

Publication type:

journal article

National Rare Diseases Registry System (NRDRS): China's first nation-wide rare diseases demographic analyses.

Published in:

2021

By:

Guo, Jian;
Liu, Peng;
Chen, Limeng;
Lv, Haohan;
Li, Jie;
Yu, Weichao;
Xu, Kaifeng;
Zhu, Yicheng;
Wu, Zhihong;
Tian, Zhuang;
Jin, Ye;
Yang, Rachel;
Gu, Weihong;
Zhang, Shuyang;
Administrative Group of National Rare Diseases Registry System of China

Publication type:

journal article

Genetic testing and diagnosis of inherited retinal diseases.

Published in:

2021

By:

Lam, Byron L.;
Leroy, Bart P.;
Black, Graeme;
Ong, Tuyen;
Yoon, Dan;
Trzupek, Karmen

Publication type:

journal article

Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.

Published in:

2021

By:

Zhu, Guoyan;
Luo, Mingyao;
Chen, Qianlong;
Zhang, Yinhui;
Zhao, Kun;
Zhang, Yujing;
Shu, Chang;
Yang, Hang;
Zhou, Zhou

Publication type:

journal article

On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum.

Published in:

2021

By:

Maxfield, Maree;
Cooper, Monica S.;
Kavanagh, Anne;
Devine, Alexandra;
Gill Atkinson, Liz

Publication type:

journal article

Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia.

Published in:

2021

By:

Guilhem, Alexandre;
Portalès, Pierre;
Dupuis-Girod, Sophie;
Rivière, Sophie;
Vincent, Thierry

Publication type:

journal article

Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium.

Published in:

2021

By:

Rudebeck, Mattias;
Scott, Ciarán;
Rhodes, Nicholas P.;
van Kan, Christa;
Olsson, Birgitta;
Al-sbou, Mohammed;
Hall, Anthony K.;
Sireau, Nicolas;
Ranganath, Lakshminarayan R.

Publication type:

journal article

Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

Published in:

2021

By:

Shen, Qian;
Liu, Jialu;
Chen, Jing;
Zhou, Shuizheng;
Wang, Yi;
Yu, Lifei;
Sun, Li;
Wang, Liuhui;
Wu, Bingbing;
Liu, Fang;
Cao, Yun;
Huang, Ying;
Wang, Jianshe;
Yang, Chenhao;
Zhu, Daqian;
Ma, Yangyang;
Xu, Zhengmin;
Lu, Wei;
Fu, Lili;
Zhou, Wenhao

Publication type:

journal article

Leukocyte telomere length and amyotrophic lateral sclerosis: a Mendelian randomization study.

Published in:

2021

By:

Xia, Kailin;
Zhang, Linjing;
Zhang, Gan;
Wang, Yajun;
Huang, Tao;
Fan, Dongsheng

Publication type:

journal article

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.

Published in:

2021

By:

Demaret, Tanguy;
Lacaille, Florence;
Wicker, Camille;
Arnoux, Jean-Baptiste;
Bouchereau, Juliette;
Belloche, Claire;
Gitiaux, Cyril;
Grevent, David;
Broissand, Christine;
Adjaoud, Dalila;
Abi Warde, Marie-Thérèse;
Plantaz, Dominique;
Bekri, Soumeya;
de Lonlay, Pascale;
Brassier, Anaïs

Publication type:

journal article

Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02018-6

By:

Feng, Junqi;
Yang, Chenxi;
Zhu, Ling;
Zhang, Yuchen;
Zhao, Xiaoxu;
Chen, Chi;
Chen, Qi-xing;
Shu, Qiang;
Jiang, Pingping;
Tong, Fan

Publication type:

Article

Physical and mental growth and development in children with congenital hypothyroidism: a case–control study.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02017-7

By:

Nazari, Javad;
Jafari, Kimia;
Chegini, Maryam;
Maleki, Akram;
MirShafiei, Pari;
Alimohammadi, Ali;
Kazemzadeh, Yasan;
Mikaeliyan, Reihaneh;
Amini, Saeed

Publication type:

Article

Correction to: Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.

Published in:

2021

By:

Feng, Junqi;
Yang, Chenxi;
Zhu, Ling;
Zhang, Yuchen;
Zhao, Xiaoxu;
Chen, Chi;
Chen, Qi-xing;
Shu, Qiang;
Jiang, Pingping;
Tong, Fan

Publication type:

corrected article

Correction to: Physical and mental growth and development in children with congenital hypothyroidism: a case-control study.

Published in:

2021

By:

Nazari, Javad;
Jafari, Kimia;
Chegini, Maryam;
Maleki, Akram;
MirShafei, Pari;
Alimohammadi, Ali;
Kazemzadeh, Yasan;
Mikaeliyan, Reihaneh;
Amini, Saeed

Publication type:

corrected article

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.

Published in:

2021

By:

Billon, Clarisse;
Adham, Salma;
Hernandez Poblete, Natalia;
Legrand, Anne;
Frank, Michael;
Chiche, Laurent;
Zuily, Stephane;
Benistan, Karelle;
Savale, Laurent;
Zaafrane-Khachnaoui, Khaoula;
Brehin, Anne-Claire;
Bal, Laurence;
Busa, Tiffany;
Fradin, Mélanie;
Quelin, Chloé;
Chesneau, Bertrand;
Wahl, Denis;
Fergelot, Patricia;
Goizet, Cyril;
Mirault, Tristan

Publication type:

journal article

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Published in:

2021

By:

Lin, Yiming;
Lin, Bangbang;
Chen, Yanru;
Zheng, Zhenzhu;
Fu, Qingliu;
Lin, Weihua;
Zhang, Weifeng

Publication type:

journal article

Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan.

Published in:

2021

By:

Sagara, Rieko;
Ishigaki, Masahide;
Otsuka, Manami;
Murayama, Kei;
Ida, Hiroyuki;
Fernandez, Jovelle

Publication type:

journal article

Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II.

Published in:

2021

By:

Yee, Karen S.;
Wu, Yanyu;
Harrington, Magdalena;
Waisbren, Susan E.

Publication type:

journal article

RASopathies and hemostatic abnormalities: key role of platelet dysfunction.

Published in:

2021

By:

Di Candia, Francesca;
Marchetti, Valeria;
Cirillo, Ferdinando;
Di Minno, Alessandro;
Rosano, Carmen;
Pagano, Stefano;
Siano, Maria Anna;
Falco, Mariateresa;
Assunto, Antonia;
Boccia, Giovanni;
Magliacane, Gerardo;
Pinna, Valentina;
De Luca, Alessandro;
Tartaglia, Marco;
Di Minno, Giovanni;
Strisciuglio, Pietro;
Melis, Daniela

Publication type:

journal article

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.

Published in:

2021

By:

Leiro, Beth;
Phillips, Dawn;
Duiker, Melanie;
Harmatz, Paul;
Charles, Sharon

Publication type:

journal article

Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic.

Published in:

2021

By:

Fuerboeter, Mareike;
Boettcher, Johannes;
Barkmann, Claus;
Zapf, Holger;
Nazarian, Rojin;
Wiegand-Grefe, Silke;
Reinshagen, Konrad;
Boettcher, Michael

Publication type:

journal article

Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany.

Published in:

2021

By:

Witt, Stefanie;
Kristensen, Kaja;
Wiegand-Grefe, Silke;
Boettcher, Johannes;
Bloemeke, Janika;
Wingartz, Christina;
Bullinger, Monika;
Quitmann, Julia;
und die CARE-FAM-NET Studiengruppe

Publication type:

journal article

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Published in:

2021

By:

Lin, Yubi;
Huang, Jiana;
Zhu, Zhiling;
Zhang, Zuoquan;
Xian, Jianzhong;
Yang, Zhe;
Qin, Tingfeng;
Chen, Linxi;
Huang, Jingmin;
Huang, Yin;
Wu, Qiaoyun;
Hu, Zhenyu;
Lin, Xiufang;
Xu, Geyang

Publication type:

journal article

Development and content validation of a symptom assessment for eosinophilic gastritis and eosinophilic gastroenteritis in adults and adolescents.

Published in:

2021

By:

Ho, Calvin N.;
O'Quinn, Sean;
Bailey, Julie;
Meyers, Oren;
Slagle, Ashley F.;
Dellon, Evan S.;
Datto, Catherine

Publication type:

journal article

Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE.

Published in:

2021

By:

Druschke, D.;
Krause, F.;
Müller, G.;
Scharfe, J.;
Hoffmann, G. F.;
Schmitt, J.;
TRANSLATE-NAMSE-Consortium

Publication type:

journal article

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective.

Published in:

2021

By:

Mengel, Eugen;
Patterson, Marc C.;
Chladek, Michael;
Guldberg, Christina;
í Dali, Christine;
Symonds, Tara;
Lloyd-Price, Lucy;
Mathieson, Toni;
Crowe, Joslyn;
Burbridge, Claire;
Í Dali, Christine

Publication type:

journal article

Clinics and genetic background of hereditary gingival fibromatosis.

Published in:

2021

By:

Strzelec, Karolina;
Dziedzic, Agata;
Łazarz-Bartyzel, Katarzyna;
Grabiec, Aleksander M.;
Gutmajster, Ewa;
Kaczmarzyk, Tomasz;
Plakwicz, Paweł;
Gawron, Katarzyna

Publication type:

journal article

Randomized and non-randomized designs for causal inference with longitudinal data in rare disorders.

Published in:

2021

By:

Izem, Rima;
McCarter, Robert

Publication type:

journal article

Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study.

Published in:

2021

By:

Henning, Anne Munk;
Handrup, Mette Møller;
Kjeldsen, Sia Mariann;
Larsen, Dorte Ancher;
Ejerskov, Cecilie

Publication type:

journal article

The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes.

Published in:

2021

By:

Ellis, Katherine;
Moss, Jo;
Stefanidou, Chrysi;
Oliver, Chris;
Apperly, Ian

Publication type:

journal article

In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy.

Published in:

2021

By:

Mareux, Elodie;
Lapalus, Martine;
Ben-Saad, Amel;
Callebaut, Isabelle;
Falguières, Thomas;
Gonzales, Emmanuel;
Jacquemin, Emmanuel

Publication type:

Letter

Is the combination of bilateral pulmonary nodules and mosaic attenuation on chest CT specific for DIPNECH?

Published in:

2021

By:

Samhouri, Bilal F.;
Koo, Chi Wan;
Yi, Eunhee S.;
Ryu, Jay H.

Publication type:

journal article

The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02013-x

By:

Vaisitti, Tiziana;
Peritore, Daniela;
Magistroni, Paola;
Ricci, Andrea;
Lombardini, Letizia;
Gringeri, Enrico;
Catalano, Silvia;
Spada, Marco;
Sciveres, Marco;
Di Giorgio, Angelo;
Limongelli, Giuseppe;
Varrenti, Marisa;
Gerosa, Gino;
Terzi, Amedeo;
Pace Napoleone, Carlo;
Amodeo, Antonio;
Ragni, Luca;
Dello Strologo, Luca;
Benetti, Elisa;
Fontana, Iris

Publication type:

Article

Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies.

Published in:

2021

By:

Pérez-Núñez, P.;
Lázaro, E.;
Amayra, I.;
López-Paz, J. F.;
Caballero, P.;
Martínez, O.;
Pérez, M.;
Berrocoso, S.;
Al-Rashaida, M.;
García, M.;
Rodríguez, A. A.;
Luna, P. M.

Publication type:

journal article

Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease.

Published in:

2021

By:

Atiskova, Yevgeniya;
Wildner, Jan;
Spitzer, Martin Stephan;
Aries, Charlotte;
Muschol, Nicole;
Dulz, Simon

Publication type:

journal article

Measuring Duchenne muscular dystrophy impact: development of a proxy-reported measure derived from PROMIS item banks.

Published in:

2021

By:

Schwartz, Carolyn E.;
Stark, Roland B.;
Cella, David;
Borowiec, Katrina;
Gooch, Katherine L.;
Audhya, Ivana F.

Publication type:

journal article

Scientific evidence based rare disease research discovery with research funding data in knowledge graph.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02120-9

By:

Zhu, Qian;
Nguyễn, Ðắc-Trung;
Sheils, Timothy;
Alyea, Gioconda;
Sid, Eric;
Xu, Yanji;
Dickens, James;
Mathé, Ewy A.;
Pariser, Anne

Publication type:

Article

NeoSeq: a new method of genomic sequencing for newborn screening.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02116-5

By:

Wang, Huaiyan;
Yang, Yuqi;
Zhou, Lingna;
Wang, Yu;
Long, Wei;
Yu, Bin

Publication type:

Article

International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.

Published in:

2021

By:

Evans, William;
Patterson, Marc;
Platt, Frances;
Guldberg, Christina;
Mathieson, Toni;
Pacey, Jessica;
the Core Working Group for the Delphi Study;
Berry-Kravis, Elizabeth;
Farhat, Nicole;
Gascon, Jordi;
Geberhiwot, Tarek;
Gissen, Paul;
Giugliani, Roberto;
Hastings, Caroline;
Héron, Bénédicte;
Imrie, Jackie;
Jones, Simon;
Lachmann, Robin;
Mengel, Eugen;
Pineda, Mercedes

Publication type:

journal article

Identification and treatment of primary cervical gestational trophoblastic neoplasia: a retrospective study of 13 patients and literature review.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02111-w

By:

Wang, Xiaoyu;
Yang, Junjun;
Wan, Xirun;
Feng, Fengzhi;
Zhao, Jun;
Ren, Tong;
Xiang, Yang

Publication type:

Article

Extranodal natural killer/T-cell lymphoma of the breast: a retrospective clinicopathological analysis of a consecutive 11-year case series.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02110-x

By:

Liu, Wei;
Chen, Zihang;
Li, Fanglan;
Zhang, Wenyan;
Liu, Weiping;
Zhao, Sha

Publication type:

Article

Predictors of heart failure symptoms in hereditary hemorrhagic telangiectasia patients with hepatic arteriovenous malformations.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02109-4

By:

Cusumano, Lucas R.;
Tesoriero, Joseph A.;
Wilsen, Craig B.;
Sayre, James;
Quirk, Matthew;
McWilliams, Justin P.

Publication type:

Article

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.

Published in:

Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02108-5

By:

Rohde, Carmen;
Thiele, Alena Gerlinde;
Baerwald, Christoph;
Ascherl, Rudolf Georg;
Lier, Dinah;
Och, Ulrike;
Heller, Christina;
Jung, Alexandra;
Schönherr, Kathrin;
Joerg-Streller, Monika;
Luttat, Simone;
Matzgen, Sabine;
Winkler, Tina;
Rosenbaum-Fabian, Stefanie;
Joos, Oxana;
Beblo, Skadi

Publication type:

Article