Works matching IS 17501172 AND DT 2024

Results: 457

Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03185-y

By:

Sangiorgi, L.;
Boarini, M.;
Westerheim, I.;
Skarberg, R. T.;
Clancy, J.;
Wang, V.;
Mordenti, M.

Publication type:

Article

Scoping review of the recommendations and guidance for improving the quality of rare disease registries.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03193-y

By:

Tarride, JE;
Okoh, A.;
Aryal, K.;
Prada, C.;
Milinkovic, Deborah;
Keepanasseril, A.;
Iorio, A.

Publication type:

Article

Health-related quality of life and influencing factors of patients with paroxysmal nocturnal hemoglobinuria in China.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03178-x

By:

Yu, Huaxin;
Duan, Shengnan;
Wang, Pei;
Fu, Rong;
Lv, Zixuan;
Yu, Yuchi;
Miao, Pu;
Shi, Junwei;
Zhuang, Niekun;
Hu, Huiying;
Yuan, Ni;
Che, Sijia

Publication type:

Article

An algorithm to identify patients aged 0–3 with rare genetic disorders.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03188-9

By:

Webb, Bryn D.;
Lau, Lisa Y.;
Tsevdos, Despina;
Shewcraft, Ryan A.;
Corrigan, David;
Shi, Lisong;
Lee, Seungwoo;
Tyler, Jonathan;
Li, Shilong;
Wang, Zichen;
Stolovitzky, Gustavo;
Edelmann, Lisa;
Chen, Rong;
Schadt, Eric E.;
Li, Li

Publication type:

Article

Clinical characteristics, radiological features and outcomes in pulmonary involvement of cryoglobulinemia.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03159-0

By:

Han, Hong-xiao;
Su, Wei;
Tian, Xinlun;
Zhou, Dao-bin;
Li, Jian;
Cao, Xin-xin

Publication type:

Article

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03191-0

By:

Edouard, Thomas;
Picot, Marie-Christine;
Bajanca, Fernanda;
Huguet, Helena;
Guitarte, Aitor;
Langeois, Maud;
Chesneau, Bertrand;
Van Kien, Philippe Khau;
Garrigue, Eric;
Dulac, Yves;
Amedro, Pascal

Publication type:

Article

A systematic literature review on the health-related quality of life and economic burden of Fabry disease.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03131-y

By:

Jovanovic, Ana;
Miller-Hodges, Eve;
Castriota, Felicia;
Takyar, Shweta;
Howitt, Heena;
Ayodele, Olulade

Publication type:

Article

Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy).

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03087-z

By:

Mori-Yoshimura, Madoka;
Ishigaki, Keiko;
Shimizu-Motohashi, Yuko;
Ishihara, Naoko;
Unuma, Atushi;
Yoshida, Sumiko;
Nakamura, Harumasa

Publication type:

Article

Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03195-w

By:

Li, Jing-Wen;
Mao, Shao-Jia;
Chao, Yun-Qi;
Hu, Chen-Xi;
Qian, Yan-Jie;
Dai, Yang-Li;
Huang, Ke;
Shen, Zheng;
Zou, Chao-Chun

Publication type:

Article

Epidemiology of autoimmune liver disease in Korea: evidence from a nationwide real-world database.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03086-0

By:

Lim, Jihye;
Kim, Hwa Jung

Publication type:

Article

'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03192-z

By:

Di Martino, Valerio;
Mallone, Fabiana;
Lambiase, Alessandro;
Celli, Mauro;
Mannocci, Alice;
Celli, Luca;
Mangiantini, Pietro;
Fino, Pasquale;
Moramarco, Antonietta

Publication type:

Article

Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03187-w

By:

Mahboobipour, Amir Ali;
Ala, Moein;
Safdari Lord, Javad;
Yaghoobi, Arash

Publication type:

Article

Exploration of treatment in childhood Langerhans cell histiocytosis based on inflammatory and malignant symptoms: a pilot study.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03151-8

By:

Lin, Hui-ling;
Zheng, Qing-qing;
Huang, Ru-lin;
Hu, Rong;
Liu, Xiao-dan;
Wang, Jia-yi

Publication type:

Article

The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03160-7

By:

Mansfield, Carol;
Boeri, Marco;
Coulter, Josh;
Baranowski, Eileen;
Sparks, Susan;
An Haack, Kristina;
Hamed, Alaa

Publication type:

Article

NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03166-1

By:

Zhong-Die Li;
Yu-Chuan Li;
Jing-Zhao;
Jian-She Wang;
Xin-Bao Xie

Publication type:

Article

A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red fags of undiagnosed rare disease.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023024031438

By:

Al‑Attar, Mariam;
Butterworth, Sondra;
McKay, Lucy

Publication type:

Article

Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03153-6

By:

Shi, Yumeng;
You, Hanxiao;
Liu, Chang;
Qiu, Yulu;
Lv, Chengyin;
Zhu, Yujing;
Xu, Lingxiao;
Wang, Fang;
Zhang, Miaojia;
Tan, Wenfeng

Publication type:

Article

Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023024031803

By:

Haninger‑Vacariu, Natalja;
Anastopoulos, Kyra;
Aigner, Christof;
Sunder‑Plassmann, Raute;
Gatterer, Constantin;
Ponleitner, Markus;
Sunder‑Plassmann, Gere;
Schmidt, Alice

Publication type:

Article

The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03167-0

By:

Singh, Rani H.;
Bourdages, Marie-Hélène;
Kurtz, Angela;
MacLoed, Erin;
Norman, Chelsea;
Ratko, Suzanne;
van Calcar, Sandra C.;
Kenneson, Aileen

Publication type:

Article

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03171-4

By:

Neocleous, Vassos;
Fanis, Pavlos;
Toumba, Meropi;
Skordis, Nicos;
Phylactou, Leonidas A.

Publication type:

Article

Economic burden of patients with post-surgical chronic and transient hypoparathyroidism in the United States examined using insurance claims data.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03155-4

By:

Deering, Kathleen L.;
Larsen, Niccole J.;
Loustau, Patrick;
Weiss, Blandine;
Allas, Soraya;
Culler, Michael D.;
Harshaw, Qing;
Mitchell, Deborah M.

Publication type:

Article

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03164-3

By:

Arponen, Heidi;
Vakkilainen, Svetlana;
Tomnikov, Natalie;
Kallonen, Teemu;
Silling, Steffi;
Mäkitie, Outi;
Rautava, Jaana

Publication type:

Article

Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03123-y

By:

Klintö, Kristina;
Becker, Magnus

Publication type:

Article

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03174-1

By:

Mengel, Eugen;
Muschol, Nicole;
Weinhold, Natalie;
Ziagaki, Athanasia;
Neugebauer, Julia;
Antoni, Benno;
Langer, Laura;
Gasparic, Maja;
Guillonneau, Sophie;
Fournier, Marie;
Laredo, Fernando;
Pulikottil-Jacob, Ruth

Publication type:

Article

Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03179-w

By:

Cao, Lili;
Ling, Xiuxin;
Yan, Jianguo;
Feng, Danni;
Dong, Yi;
Xu, Zhiqiang;
Wang, Fuchuan;
Zhu, Shishu;
Gao, Yinjie;
Cao, Zhenhua;
Zhang, Min

Publication type:

Article

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03090-4

By:

Berry, Lisa;
Walter, Jerry;
Johnson, Jack;
Alton, Julia;
Powers, Janet;
Llòria, Xavier;
Koulinska, Irene;
McGee, Meghan;
Laney, Dawn

Publication type:

Article

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03170-5

By:

Zhao, Xuechao;
Ning, Haofeng;
Liu, Lina;
Zhu, Chaofeng;
Zhang, Yinghui;
Sun, Guifang;
Ren, Huanan;
Kong, Xiangdong

Publication type:

Article

Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03147-4

By:

Yee, Karen S.;
Alexanderian, David;
Martin, Susan;
Olayinka-Amao, Bimpe;
Whiteman, David A. H.

Publication type:

Article

Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03156-3

By:

Claeys, Kristl G.;
Kushlaf, Hani;
Raza, Syed;
Hummel, Noemi;
Shohet, Simon;
Keyzor, Ian;
Kopiec, Agnieszka;
Graham, Ryan;
Fox, Brian;
Schoser, Benedikt

Publication type:

Article

Diagnostic delay of sarcoidosis: an integrated systematic review.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03152-7

By:

Namsrai, Tergel;
Phillips, Christine;
Parkinson, Anne;
Gregory, Dianne;
Kelly, Elaine;
Cook, Matthew;
Desborough, Jane

Publication type:

Article

Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03137-6

By:

Shao, Yong-Xian;
Liang, Cui-Li;
Su, Ya-Ying;
Lin, Yun-Ting;
Lu, Zhi-Kun;
Lin, Rui-Zhu;
Zhou, Zhi-Zi;
Zeng, Chun-Hua;
Tao, Chun-Yan;
Liu, Zong-Cai;
Zhang, Wen;
Liu, Li

Publication type:

Article

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03148-3

By:

Liu, Yupeng;
Ma, Xue;
Chen, Zhehui;
He, Ruxuan;
Zhang, Yao;
Dong, Hui;
Ma, Yanyan;
Wu, Tongfei;
Wang, Qiao;
Ding, Yuan;
Li, Xiyuan;
Li, Dongxiao;
Song, Jinqing;
Li, Mengqiu;
Jin, Ying;
Qin, Jiong;
Yang, Yanling

Publication type:

Article

The socioeconomic epidemiology of inherited retinal diseases in Portugal.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03161-6

By:

Marta, Ana;
Marques, João Pedro;
Santos, Cristina;
Coutinho-Santos, Luísa;
Vaz-Pereira, Sara;
Costa, José;
Arede, Pedro;
Félix, Raquel;
Geada, Sara;
Gouveia, Nuno;
Silva, Rui;
Baptista, Margarida;
Lume, Miguel;
Parreira, Ricardo;
Azevedo Soares, Célia;
Menéres, Maria João;
Lemos, Carolina;
Melo Beirão, João

Publication type:

Article

Genotype-phenotype associations in microtia: a systematic review.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03142-9

By:

Wahdini, Siti Isya;
Idamatussilmi, Fina;
Pramanasari, Rachmaniar;
Prawoto, Almas Nur;
Wungu, Citrawati Dyah Kencono;
Putri, Indri Lakhsmi;
Gunadi

Publication type:

Article

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03150-9

By:

Shiyang Gao;
Qianwen Zhang;
Yu Ding;
Libo Wang;
Zhiying Li;
Feihan Hu;
Ru‑en Yao;
Tingting Yu;
Guoying Chang;
Xiumin Wang

Publication type:

Article

The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03172-3

By:

Van Hirtum, Liesbet D. F. M.;
Van Damme, Tine;
Van Hove, Johan L. K.;
Steyaert, Jean G.

Publication type:

Article

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03165-2

By:

Emperador, Sonia;
Habbane, Mouna;
López-Gallardo, Ester;
del Rio, Alejandro;
Llobet, Laura;
Mateo, Javier;
Sanz-López, Ana María;
Fernández-García, María José;
Sánchez-Tocino, Hortensia;
Benbunan-Ferreiro, Sol;
Calabuig-Goena, María;
Narvaez-Palazón, Carlos;
Fernández-Vega, Beatriz;
González-Iglesias, Hector;
Urreizti, Roser;
Artuch, Rafael;
Pacheu-Grau, David;
Bayona-Bafaluy, Pilar;
Montoya, Julio;
Ruiz-Pesini, Eduardo

Publication type:

Article

Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03162-5

By:

Raycheva, Ralitsa;
Kostadinov, Kostadin;
Mitova, Elena;
Iskrov, Georgi;
Stefanov, Georgi;
Vakevainen, Merja;
Elomaa, Kaisa;
Man, Yuen-Sum;
Gross, Edith;
Zschüntzsch, Jana;
Röttger, Richard;
Stefanov, Rumen

Publication type:

Article

Sleep disturbance in Angelman syndrome patients.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03154-5

By:

Qu, Song;
Wang, Junyi;
Guan, Xingying;
Song, Cui;
Wang, Yanyan

Publication type:

Article

Social support and medication adherence among adult myasthenia gravis patients in China: the mediating role of mental health and self-efficacy.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03145-6

By:

Yu, Jiazhou;
Xie, Luyao;
Chen, Shanquan;
Fang, Zhilan;
Zhu, Liling;
Zhang, Huanyu;
Xu, Richard H.;
Yang, Huan;
Dong, Dong

Publication type:

Article

Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03138-5

By:

Guo, Fang;
Zhou, Lingna;
Zhang, Feng;
Yu, Bin;
Yang, Yuqi;
Liu, Zhiwei

Publication type:

Article

GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03132-x

By:

Wang, Chung-Hsing;
Huang, Yu‐Nan;
Liao, Wen-Ling;
Hsieh, Ai-Ru;
Lin, Wei-De;
Liu, Kai-Wen;
Lu, Wen-Li;
Huang, Chieh‐Chen;
Chien, Yin-Hsiu;
Lee, Ni-Chung;
Su, Pen-Hua;
Tsai, Fuu-Jen

Publication type:

Article

Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03158-1

By:

Banerjee, Sukanya;
Radotra, Bishan Dass;
Luthra-Guptasarma, Manni;
Goyal, Manoj K

Publication type:

Article

Genetic insights into the 'sandwich fusion' subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03134-9

By:

Xu, Nanfang;
Hung, Kan-Lin;
Gong, Xiaoli;
Fan, Dongwei;
Tian, Yinglun;
Yan, Ming;
Wei, Yuan;
Wang, Shenglin

Publication type:

Article

Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A.

Published in:

2024

By:

Attarian, Shahram;
Young, Peter;
Brannagan, Thomas H.;
Adams, David;
Van Damme, Philip;
Thomas, Florian P.;
Casanovas, Carlos;
Kafaie, Jafar;
Tard, Céline;
Walter, Maggie C.;
Péréon, Yann;
Walk, David;
Stino, Amro;
de Visser, Marianne;
Verhamme, Camiel;
Amato, Anthony;
Carter, Gregory;
Magy, Laurent;
Statland, Jeffrey M.;
Felice, Kevin

Publication type:

Correction Notice

Correction: A review and recommendations for oral chaperone therapy in adult patients with Fabry disease.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03140-x

By:

Nowicki, Michał;
Bazan‑Socha, Stanisława;
Błażejewska‑Hyżorek, Beata;
Kłopotowski, Mariusz M.;
Komar, Monika;
Kusztal, Mariusz A.;
Liberek, Tomasz;
Małyszko, Jolanta;
Mizia‑Stec, Katarzyna;
Oko‑Sarnowska, Zofia;
Pawlaczyk, Krzysztof;
Podolec, Piotr;
Sławek, Jarosław

Publication type:

Article

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03105-0

By:

Yska, Hemmo A.F.;
Engelen, Marc;
Bugiani, Marianna

Publication type:

Article

Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03141-w

By:

Gizzo, Luciana;
Bliss, Geraldine;
Palaty, Chrystal;
Kolevzon, Alexander

Publication type:

Article

Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03115-y

By:

Johnson, Jan;
Somerfield, Wendy;
Johnson, Simon R.

Publication type:

Article

Moderate- to vigorous-intensity physical activities for hemophilia A patients during low-dose pharmacokinetic-guided extended half-life factor VIII prophylaxis.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03092-2

By:

Srichumpuang, Chonlatis;
Rakmanotham, Arunothai;
Moonla, Chatphatai;
Sosothikul, Darintr

Publication type:

Article