Works matching IS 17501172 AND DT 2025 AND VI 20 AND IP 1

Results: 428

A single-centre retrospective study on the clinical characteristics of patients with hereditary angioedema and the therapeutic effect of lanadelumab.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03988-7

By:

Xu, Yanhua;
Guo, Yinshi

Publication type:

Article

Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03984-x

By:

Mei, Daoqi;
Gu, Yu;
Zhang, Bingbing;
Mei, Shiyue;
Wang, Xiaona;
Ma, Yuanning;
Deng, Jie;
Tang, Jihong

Publication type:

Article

Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03962-3

By:

Xu, Xuebi;
Xia, Junhui;
Xu, Fei;
Wang, Mingshan;
Yang, Lihong;
Chen, Xiaoli

Publication type:

Article

Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03955-2

By:

Carbyn, Holly;
Hossain, Abiaz;
Dias, Raquel L.;
Palmer, Lisa D.;
Ayoub, Sophie;
Lingley-Pottie, Patricia;
McGrath, Patrick J.;
Rideout, Andrea L.;
Shugar, Andrea;
Cytrynbaum, Cheryl;
McDonald-McGinn, Donna M.;
Swillen, Ann;
Bassett, Anne S.;
Meier, Sandra

Publication type:

Article

Experiences of symptom burden among young children born with esophageal atresia–tracheoesophageal fistula: a US focus group study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03939-2

By:

Dellenmark-Blom, Michaela;
Bennett, John;
Micalizzi, Rosella;
Cole, Lianne;
Woods, Kaylee;
Cardoni, Lauren;
Frain, Leah;
Mohamed, Abdimajid;
Yasuda, Jessica;
Ngo, Peter;
Widenmann, Anke;
Slater, Graham;
Zendejas, Benjamin

Publication type:

Article

Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03978-9

By:

Hermann, Julia;
Raak, Christa K.;
Ostermann, Thomas;
Scharbrodt, Wolfram

Publication type:

Article

Anti-MDA5 antibody IgG1 subtype is associated with rapidly progressive interstitial lung disease in anti-MDA5-positive dermatomyositis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03921-y

By:

Wu, Yun;
Wang, Yue;
Qiu, Yulu;
Lv, Chengying;
Zhu, Yujing;
Wang, Lei;
Xu, Lingxiao;
You, Hanxiao;
Wang, Fang;
Tan, Wenfeng

Publication type:

Article

Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03985-w

By:

Cen, Ziyan;
Ge, Pingping;
Chen, Yuhe;
Zhang, Ting;
Wang, Peiyao;
Hu, Lingwei;
Wu, Benqing;
Huang, Xinwen

Publication type:

Article

Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03970-3

By:

Cai, Meiying;
Gao, Yashi;
Xue, Huili;
Fu, Xianguo;
Cao, Hua;
Xu, Liangpu;
Lin, Na;
Huang, Hailong

Publication type:

Article

ECHS1: pathogenic mechanisms, experimental models, and emerging therapeutic strategies.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03959-y

By:

Fu, Qiang;
Qiu, Rui;
Li, Shang;
Qin, Yuxiang;
Lu, Ziyi;
Liyao, Shanxin;
Yang, Zimo;
Cheng, Xiang;
Chen, Yuewen;
Xu, Huan;
Cheng, Yong

Publication type:

Article

Genetic self-counselors in Tunisia: the role of health education in hemoglobinopathies prevention among high school students.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03958-z

By:

Maaoui, Foued;
Moumni, Imen;
Arboix-Calas, France;
Safra, Ines;
Mnif, Samia

Publication type:

Article

6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal<sup>®</sup>) in primary distal renal tubular acidosis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03953-4

By:

Bertholet-Thomas, Aurélia;
De Mul, Aurélie;
Bernardor, Julie;
Roussey-Kesler, Gwenaëlle;
Podracka, Ludmila;
Novo, Robert;
Nobili, François;
Knebelmann, Bertrand;
Harambat, Jérôme;
Golubovic, Emilija;
Boyer, Olivia;
Di Maio, Massimo;
Cailliez, Mathilde;
Baudouin, Véronique;
Chidler, Laure;
Leblanc, Véronique;
Bacchetta, Justine

Publication type:

Article

A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03927-6

By:

Pace, Alex;
Roda, Weston;
Poon, Corrina;
McMillan, Hugh J.;
Oskoui, Maryam;
MacKenzie, Alex;
Chakraborty, Pranesh;
Round, Jeff

Publication type:

Article

Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03922-x

By:

Hopkin, Robert J.;
Laney, Dawn;
Kazemi, Sean;
Walter, Angela

Publication type:

Article

The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03920-z

By:

Leeuwenberg, Kristofoor E.;
Bruijnes, Johanna E.;
Karnebeek, llse;
Smulders, Fran;
Altena-Rensen, Sandra;
Gorissen-Brouwers, Caroline M.L.;
Klinkenberg, Sylvia;
Faber, Catharina G.;
Braakman, Hilde;
Mul, Karlien

Publication type:

Article

Epidemiology, disease burden and costs of Duchenne muscular dystrophy in Germany: an observational, retrospective health claims data analysis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03906-x

By:

Diesing, Joanna;
Kirschner, Janbernd;
Pechmann, Astrid;
König, Jörg;
Kunk, Leonie;
Garcia, Tarcyane Barata;
Schwedhelm, Carolina;
Militzer-Horstmann, Carsta;
Hänsel, Ivonne;
Kisser, Agnes

Publication type:

Article

Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series.

Published in:

2025

By:

Fomina, Daria S.;
Lebedkina, Marina S.;
Bobrikova, Elena N.;
Yukhnovskaya, Yulia D.;
Roppelt, Anna A.;
Mukhina, Olga A.;
Markina, Ulyana A.;
Alexeeva, Yulia G.;
Nikitina, Ekaterina A.;
Maurer, Marcus;
Karaulov, Alexander V.;
Lysenko, Maryana A.;
Buttgereit, Thomas

Publication type:

Letter

Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03979-8

By:

Ijaz, Aamir;
Abbas, Seyyedha;
Shabbir, Maria;
Badshah, Yasmin;
Abid, Fizzah;
Afsar, Tayyaba;
Razak, Suhail

Publication type:

Article

Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03969-w

By:

Yang, Xi;
Hu, Rong;
Huang, Weiwei;
Lu, Jian

Publication type:

Article

Distribution of perivascular spaces distribution and relate to the clinical features of SCA3.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03954-3

By:

Chen, Xinyuan;
Lian, Yanhua;
Lin, Wei;
Xia, Xiaoyue;
Zhang, Lin;
Huang, Zhuoying;
Cui, Maolin;
Yuan, Ruying;
Li, Mengcheng;
Huang, Ziqiang;
Chen, Naping;
Tu, Yuqing;
Hu, Jianping;
Wang, Ning;
Chen, Qunlin;
Gan, Shirui

Publication type:

Article

Neuropsychiatric symptoms and clinical characteristics of survivors with colloid cysts.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03905-y

By:

Onoichenco, Amanda;
Dhallu, Tanveen;
Kabariti, Sarah;
Li, Qiushuang;
Harter, David;
Pillai, Cinthi;
Snyman, Claire;
Yucel, Recai;
Gustafson, Deborah

Publication type:

Article

Patient experience in retinitis pigmentosa and Choroideremia– a concept elicitation study in 17 patients based on qualitative interviews.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03713-4

By:

Rometsch, Elke;
Thuresson, Per-Olof;
Hurst, Noémie;
Eule, Eckhart;
Bachmeier, Isabel;
Blanchard, Benoit;
Sahel, José-Alain;
Audo, Isabelle

Publication type:

Article

A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03707-2

By:

Keyzor, Ian;
Martins, Ana Maria;
Uçar, Sema Kalkan;
Yamakawa, Hiroyuki;
Chien, Yin-Hsiu;
Arslan, Nur;
Niu, Dau-Ming;
Tümer, Leyla;
Baldock, Laura;
Shohet, Simon;
Giuliano, Joseph D.

Publication type:

Article

From genes to therapy: navigating the complex landscape of neurofibromatosis management in Canada through advanced diagnostic, targeted therapies, and holistic care.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03793-2

By:

Zhao, Victor Shu Cheng

Publication type:

Article

Comprehensive review on Fanconi anemia: insights into DNA interstrand cross-links, repair pathways, and associated tumors.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03896-w

By:

Fang, Chenyan;
Zhu, Zhoujun;
Cao, Jun;
Huang, Jun;
Xu, Yipeng

Publication type:

Article

Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03940-9

By:

Xu, Yao;
Chen, Yingjie;
Fan, Jiali;
Kou, Sasa;
Zhuang, Xinyu;
Zhou, Bingyuan;
Zhang, Xiaofeng

Publication type:

Article

RNA-binding proteins regulate immune-related alternative splicing in inherited salt-losing tubulopathies.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03972-1

By:

Ma, Fuhui;
Ma, Yanrong;
Yusufu, Mayinu;
Wusiman, Reziwanguli;
Xing, Shuqing;
Song, Xiangxin;
Li, Suli;
Guo, Yanying

Publication type:

Article

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03810-4

By:

AlQudairy, Hanan;
AlMuhaizea, Mohammad A.;
Tohary, Mohamed;
Alfuraih, Maissa;
Alnafisah, Aisha;
AlHargan, Aljouhra;
Albader, Anoud;
Jaber, Hadeel;
Almass, Rawan;
Albakheet, Albandary;
Alsheddi, Terfa;
AlObeid, Eman;
Alrasheed, Maha M.;
Al-Odaib, Ali;
AlZaidan, Hamad;
AlSayed, Moeenaldeen D.;
Kaya, Namik

Publication type:

Article

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03938-3

By:

van Engelen, N.;
van Santen, H. M.;
van Dijk, F.;
Kleisman, M. M.;
Merks, J. H.M.;
Schouten-van Meeteren, A. Y.N.;
Kamping, E. J.;
Neveling, K.;
Hoischen, A.;
Jongmans, M. C.J.;
Kuiper, R. P.

Publication type:

Article

Evaluation and study of adverse reactions to imiglucerase based on the FAERS database.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03934-7

By:

Hong, Pan;
Zhou, Qingbo

Publication type:

Article

Spectrum and epidemiology of rare diseases in a Chinese natural population of 14.31 million residents, 2012–2023.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03933-8

By:

Li, Ming-Jia;
Li, Qi;
Zhao, Miao-Miao;
Kim, Hanna;
Feng, Ruo-Qi;
Guo, Mo-Ning;
heng, Jian-Peng;
Yang, Jin-Kui;
Liu, Chang

Publication type:

Article

Autosomal dominant tubulointerstitial kidney disease-UMOD: a short review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03951-6

By:

Qiao, Panpan;
Wang, Zhaohui;
Xie, Jingyuan

Publication type:

Article

Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03904-z

By:

Smith, Ian C.;
Abusetah, Yasmin;
Osman, Homira;
Garg, Aditi;
Grant, Alyssa;
Lochmuller, Hanns;
McMillan, Hugh;
Pfeffer, Gerald;
Korngut, Lawrence;
Gagnon, Cynthia;
Lintern, Stacey;
Wojtal, Daria;
Selby, Kathy;
Thavorn, Kednapa;
Warman-Chardon, Jodi

Publication type:

Article

Exploring patients' experiences with wAIHA and the content validity of the FACIT-fatigue: a qualitative interview study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03767-4

By:

Shukla, Anubha;
Cooper, Owen;
Jones, Karen;
Hill, Quentin A.;
McCrae, Keith;
Fattizzo, Bruno;
Kostikas, Michael;
Krol, Marieke;
Bascle, Stephanie;
Bozzi, Sylvie;
Daak, Ahmed;
Maher, Joshua

Publication type:

Article

A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03950-7

By:

Ren, Hong;
Zhang, Wei;
Ouyang, Yan;
Guo, Junhong;
Xu, Hong;
Ma, Jie;
Luo, Xiaoping;
Pan, Xiaoxia;
Yuan, Yun;
Shen, Qian;
Li, Bin;
Feng, Qiqi;
Liu, Shi;
Chen, Nan

Publication type:

Article

Multicenter study on long-term growth in patients with phenylketonuria.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03946-3

By:

Stanescu, S.;
Belanger-Quintana, A.;
Rocha, J. C.;
Almeida, M. F.;
Ahring, K.;
Dokoupil, K.;
Lammardo, A. M.;
van Dam, E.;
Muriel, A.;
MacDonald, A.;
GokmenOzel, H.;
Robert, M.

Publication type:

Article

Identification of NPR2 gene mutations affecting chondrocyte differentiation in short stature through JAK2-STAT5.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03936-5

By:

Wei, Shuoshuo;
He, Mingming;
Zhang, Chuanpeng;
Li, Yanying;
Zhang, Mei;
Hou, Xinguo;
Ban, Bo;
Zhao, Qianqian

Publication type:

Article

Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03929-4

By:

Yan, Yue;
Zhu, Danhui;
Ma, Kai;
Luo, Xufeng;
Zhang, Xiaoli;
Deng, Xiaolong;
Lu, Mei;
Li, Yang;
Li, Jianwei;
Gao, Feng;
Mao, Shanshan

Publication type:

Article

My A–T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasia.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03919-6

By:

Khan, Munira;
Cassidy, Elizabeth;
Parkin, Tracey;
Wallace, Amanda;
Carter, Bernie;
Whitehouse, William;
Munro, James;
Paton, Joanne;
Bunn, Lisa

Publication type:

Article

Family planning, sexual activity and contraception in hereditary hemorrhagic telangiectasia: a European survey study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03887-x

By:

Hessels, Josefien;
Post, Marco C.;
Boerman, Sanne;
Droege, Freya;
Dupuis, Olivier;
ePAG;
Crocione, Claudia;
Grabowski, Christina;
Blom, Ria;
Botella, Luisa M.;
Brocca, Fernando;
Erasme, Didier;
Federici, Paolo;
Lundgren, Mildred;
Soderman, Tone;
Druckman, Karen T.;
Woods, Dara;
Geisthoff, Urban W.;
Haahr, Pernille D.;
Kjeldsen, Anette D.

Publication type:

Article

Psychometric validation of the Worst Itch Numerical Rating Scale (WI-NRS) and other patient-reported outcome measures for assessing severity and impact of pruritus in patients with primary biliary cholangitis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03798-x

By:

Gelhorn, Heather;
Currie, Brooke M.;
Bushnell, Donald M.;
Martin, Mona L.;
Fofana, Fatoumata;
Karn, Hayley;
Mayo, Marlyn J.;
Jones, David E.;
McLaughlin, Megan M.;
von Maltzahn, Robyn

Publication type:

Article

Clinical features and rare complications in 132 patients with hepatic glycogenosis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03783-4

By:

Kor, Deniz;
Bulut, Fatma Derya;
Köşeci, Burcu;
Kara, Esra;
Burgaç, Ezgi;
Kaplan, İrem;
Tüzel Gündüz, Nazmiye;
Önenli Mungan, Halise Neslihan

Publication type:

Article

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03702-7

By:

Balci, Mehmet Cihan;
Kor, Deniz;
Yildiz, Yilmaz;
Karaca, Meryem;
Bulut, Fatma Derya;
Kahraman, Ayca Burcu;
Yesil, Alihan;
Burgac, Ezgi;
Ciki, Kismet;
Selamioglu, Arzu;
Koseci, Burcu;
Durmus, Asli;
Kaplan, Irem;
Kara, Esra;
Mungan, Halise Neslihan;
Sivri, Serap;
Gokcay, Gulden Fatma;
Tokatli, Aysegul;
Demirkol, Mubeccel;
Coskun, Turgay

Publication type:

Article

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03632-4

By:

MacMullen, Laura E.;
Reynolds, Elizabeth;
Weis, Marissa;
George-Sankoh, Ibrahim;
Nguyen, Sara;
Stanley, Katelynn D.;
Redko, Mariya;
Poblete, Maria;
Goldstein, Amy C.;
Ganetzky, Rebecca D.

Publication type:

Article

Correlational study between SARS-CoV-2 infection and incidence of situs inversus in China.

Published in:

2025

By:

Guo, Zhenglong;
Wang, Ruili;
Yang, Wenke;
Chen, Xin;
Hao, Bingtao;
Liao, Shixiu

Publication type:

Letter

Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03941-8

By:

Garrison, Sheldon R.;
Siegel, Isaac J.;
Takala, Christopher R.;
Vaithilingam, Sarah L.;
Yang, Gene W.;
Zoghbi, Anthony W.;
Hartig, Madeline M.;
Vadapalli, Sreya;
Anderson, Margaret E.

Publication type:

Article

Identification of NPR2 gene mutations affecting chondrocyte differentiation in short stature through JAK2-STAT5.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03936-5

By:

Wei, Shuoshuo;
He, Mingming;
Zhang, Chuanpeng;
Li, Yanying;
Zhang, Mei;
Hou, Xinguo;
Ban, Bo;
Zhao, Qianqian

Publication type:

Article

Family planning, sexual activity and contraception in hereditary hemorrhagic telangiectasia: a European survey study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03887-x

By:

Hessels, Josefien;
Post, Marco C.;
Boerman, Sanne;
Droege, Freya;
Dupuis, Olivier;
Crocione, Claudia;
Grabowski, Christina;
Blom, Ria;
Botella, Luisa M.;
Brocca, Fernando;
Erasme, Didier;
Federici, Paolo;
Lundgren, Mildred;
Soderman, Tone;
Druckman, Karen T.;
Woods, Dara;
Geisthoff, Urban W.;
Haahr, Pernille D.;
Kjeldsen, Anette D.;
Mager, Johannes-Jurgen

Publication type:

Article

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03702-7

By:

Balci, Mehmet Cihan;
Kor, Deniz;
Yildiz, Yilmaz;
Karaca, Meryem;
Bulut, Fatma Derya;
Kahraman, Ayca Burcu;
Yesil, Alihan;
Burgac, Ezgi;
Ciki, Kismet;
Selamioglu, Arzu;
Koseci, Burcu;
Durmus, Asli;
Kaplan, Irem;
Kara, Esra;
Mungan, Halise Neslihan;
Sivri, Serap;
Gokcay, Gulden Fatma;
Tokatli, Aysegul;
Demirkol, Mubeccel;
Coskun, Turgay

Publication type:

Article

Psychometric validation of the Worst Itch Numerical Rating Scale (WI-NRS) and other patient-reported outcome measures for assessing severity and impact of pruritus in patients with primary biliary cholangitis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03798-x

By:

Gelhorn, Heather;
Currie, Brooke M.;
Bushnell, Donald M.;
Martin, Mona L.;
Fofana, Fatoumata;
Karn, Hayley;
Mayo, Marlyn J.;
Jones, David E.;
McLaughlin, Megan M.;
von Maltzahn, Robyn

Publication type:

Article