Research Papers

25 of 1981 papers

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Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalgluco…
Boentert M; Berger KI; Díaz-Manera J; Dimachkie MM; Hamed A; Riou França L; Thibault N; Shukla P; Ishak J; Caro JJ.
Orphanet J Rare Dis (Unknown)
Published: 2024
4/6 Transparent
Registered Funding Declared
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts.
Foehr R; Anderson K; Dombrowski O; Foehr A; Foehr ED.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Hyperthermic intraperitoneal chemotherapy in patients with incomplete cytoreduction for appendiceal pseudomyxoma perito…
Wang B; Ma R; Shi G; Fan X; Rao B; Xu H.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.
Duan S; Luo H; Wang Y; Jiang D; Liu J; Li J; Zheng H; Zhao T; Liu C; Zhang H; Mao C; Zhang L; Xu Y.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked…
Siri B; Olivieri G; Lepri FR; Poms M; Goffredo BM; Commone A; Novelli A; Häberle J; Dionisi-Vici C.
Orphanet J Rare Dis (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
Serrano-Gonzalo I; de Frutos LL; Lahoz-Gil C; Delgado-Mateos F; Fernández-Galán MÁ; Morales-Conejo M; Calle-Gordo MV; Ibarretxe-Gerediaga D; Madinaveitia-Ochoa A; Albarracin-Arraigosa A; Balanzat-Muñoz J; Correcher-Medina P; García-Frade LJ; Hernández-Rivas JM; Labbadia F; López-Dupla JM; Lozano-Almela ML; Mora-Casterá E; Noya-Pereira MS; Ruíz-Guinaldo MÁ; Del Mar Tormo-Díaz M; Vitoria-Miñana I; Arévalo-Vargas I; Andrade-Campos M; Giraldo P.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenom…
van de Riet L; Alsem MW; Beijneveld RSI; van Woensel JBM; van Karnebeek CD.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Delineating family needs in the transition from hospital to home for children with medical complexity: part 1, a meta-a…
van de Riet L; Alsem MW; van der Leest EC; van Etten-Jamaludin FS; Maaskant JM; van Woensel JBM; van Karnebeek CD.
Orphanet J Rare Dis (Unknown)
Published: 2023
4/6 Transparent
Registered Funding Declared
Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic por…
Horie Y; Yasuoka Y; Adachi T.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Association of preoperative retinal microcirculation and perioperative outcomes in patients undergoing congenital cardi…
Li C; Zhu Z; Yuan H; Hu Y; Xue Y; Zhong P; Huang M; Ren Y; Kuang Y; Zeng X; Yu H; Yang X.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): da…
Kishnani PS; Kronn D; Suwazono S; Broomfield A; Llerena J; Al-Hassnan ZN; Batista JL; Wilson KM; Periquet M; Daba N; Hahn A; Chien YH.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of ol…
Wasserstein MP; Lachmann R; Hollak C; Barbato A; Gallagher RC; Giugliani R; Guelbert NB; Hennermann JB; Ikezoe T; Lidove O; Mabe P; Mengel E; Scarpa M; Senates E; Tchan M; Villarrubia J; Thurberg BL; Yarramaneni A; Armstrong NM; Kim Y; Kumar M.
Orphanet J Rare Dis (Unknown)
Published: 2023
4/6 Transparent
Registered Funding Declared
The improvement of motor symptoms in Huntington's disease during cariprazine treatment.
Csehi R; Molnar V; Fedor M; Zsumbera V; Palasti A; Acsai K; Grosz Z; Nemeth G; Molnar MJ.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M; Cai HC; Lin H; Chang L; Dai JW; Chen J; Duan MH; Zhou DB; Goyal G; Cao XX.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeleta…
Zhang W; Yao Z; Guo R; Cao J; Li W; Hao C; Zhang X.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Explorative research on glucolipid metabolism and levels of adipokines in pseudohypoparathyroidism type 1 patients.
Yang Y; Song A; Gong F; Jiang Y; Li M; Xia W; Xing X; Wang O; Pan H.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis.
Yoon S; Lee M; Jung HI; Khan MM; Kim SY; Kim H; Wasti S.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Estimating mortality in rare diseases using a population-based registry, 2002 through 2019.
Mazzucato M; Visonà Dalla Pozza L; Minichiello C; Toto E; Vianello A; Facchin P.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patie…
Lin F; Yang K; Lin X; Jin M; Chen L; Zheng FZ; Qiu LL; Ye ZX; Chen HZ; Lin MT; Wang N; Wang ZQ.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Welters A; Leiter SM; Bachmann N; Bergmann C; Hoermann H; Korsch E; Meissner T; Payne F; Williams R; Hussain K; Semple RK; Kummer S.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function.
Lyster AL; Biørn SH; Kjeldsen AD; Nielsen C; Lange B; Fialla AD; Vinholt PJ.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study.
Gayà-Barroso A; González-Moreno J; Rodríguez A; Ripoll-Vera T; Losada-López I; Gili M; Paneque M; Pérez-Martínez S; Cisneros-Barroso E.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Sickle cell disease: embedding patient participation into an international conference can transform the role of lived e…
Pellegrini M; Chakravorty S; Del Mar Manu Pereira M; Gulbis B; Gilmour-Hamilton C; Hayes S; de Montalembert M; Inusa BPD; Colombatti R; Roy NB.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease …
Toscano A; Musumeci O; Sacchini M; Ravaglia S; Siciliano G; Fiumara A; Verrecchia E; Maione M; Gentile J; Fischetto R; Crescimanno G; Taurisano R; Sechi A; Gasperini S; Cianci V; Maggi L; Parini R; Lupica A; Scarpa M.
Orphanet J Rare Dis (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: bew…
Erculiani M; Poluzzi F; Mottadelli G; Felici E; Ml N; Caraccia M; Grandi A; Casella S; Giacometti L; Montobbio G; Ceccherini I; Di Marco E; Bonaretti C; Biassoni R; Squillario M; Pietrantoni A; Villanacci V; Pini Prato A.
Orphanet J Rare Dis (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared