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Refinado por: Base de dados/Biblioteca: BACON - Mir@bel - GLOBAL_LIBRESACCES remover idioma: Japonês remover Orphanet Journal Of Rare Diseases remover
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1
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
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Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis

Crisafulli, Salvatore ; Sultana, Janet ; Fontana, Andrea ; Salvo, Francesco ; Messina, Sonia ; Trifirò, Gianluca

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-141, Article 141 [Periódico revisado por pares]

London: BioMed Central Ltd

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2
A roadmap to using historical controls in clinical trials - by Drug Information Association Adaptive Design Scientific Working Group (DIA-ADSWG)
A roadmap to using historical controls in clinical trials - by Drug Information Association Adaptive Design Scientific Working Group (DIA-ADSWG)
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A roadmap to using historical controls in clinical trials - by Drug Information Association Adaptive Design Scientific Working Group (DIA-ADSWG)

Ghadessi, Mercedeh ; Tang, Rui ; Zhou, Joey ; Liu, Rong ; Wang, Chenkun ; Toyoizumi, Kiichiro ; Mei, Chaoqun ; Zhang, Lixia ; Deng, C Q ; Beckman, Robert A

Orphanet journal of rare diseases, 2020-03, Vol.15 (1), p.69-69, Article 69 [Periódico revisado por pares]

England: BioMed Central

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3
Kaposiform hemangioendothelioma: current knowledge and future perspectives
Kaposiform hemangioendothelioma: current knowledge and future perspectives
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Kaposiform hemangioendothelioma: current knowledge and future perspectives

Ji, Yi ; Chen, Siyuan ; Yang, Kaiying ; Xia, Chunchao ; Li, Li

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.39-39, Article 39 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
The use of machine learning in rare diseases: a scoping review
The use of machine learning in rare diseases: a scoping review
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The use of machine learning in rare diseases: a scoping review

Schaefer, Julia ; Lehne, Moritz ; Schepers, Josef ; Prasser, Fabian ; Thun, Sylvia

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.145-145, Article 145 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
FGF23 and its role in X-linked hypophosphatemia-related morbidity
FGF23 and its role in X-linked hypophosphatemia-related morbidity
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FGF23 and its role in X-linked hypophosphatemia-related morbidity

Beck-Nielsen, Signe Sparre ; Mughal, Zulf ; Haffner, Dieter ; Nilsson, Ola ; Levtchenko, Elena ; Ariceta, Gema ; de Lucas Collantes, Carmen ; Schnabel, Dirk ; Jandhyala, Ravi ; Mäkitie, Outi

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.58-58, Article 58 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients
TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients
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TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients

Kingswood, John C ; d'Augères, Guillaume B ; Belousova, Elena ; Ferreira, José C ; Carter, Tom ; Castellana, Ramon ; Cottin, Vincent ; Curatolo, Paolo ; Dahlin, Maria ; de Vries, Petrus J ; Feucht, Martha ; Fladrowski, Carla ; Gislimberti, Gabriella ; Hertzberg, Christoph ; Jozwiak, Sergiusz ; Lawson, John A ; Macaya, Alfons ; Nabbout, Rima ; O'Callaghan, Finbar ; Benedik, Mirjana P ; Qin, Jiong ; Marques, Ruben ; Sander, Valentin ; Sauter, Matthias ; Takahashi, Yukitoshi ; Touraine, Renaud ; Youroukos, Sotiris ; Zonnenberg, Bernard ; Jansen, Anna C

Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.2-2, Article 2 [Periódico revisado por pares]

England: BioMed Central

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7
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Vill, Katharina ; Schwartz, Oliver ; Blaschek, Astrid ; Gläser, Dieter ; Nennstiel, Uta ; Wirth, Brunhilde ; Burggraf, Siegfried ; Röschinger, Wulf ; Becker, Marc ; Czibere, Ludwig ; Durner, Jürgen ; Eggermann, Katja ; Olgemöller, Bernhard ; Harms, Erik ; Schara, Ulrike ; Kölbel, Heike ; Müller-Felber, Wolfgang

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.153-153, Article 153 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
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Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

Suhr, Ole B ; Coelho, Teresa ; Buades, Juan ; Pouget, Jean ; Conceicao, Isabel ; Berk, John ; Schmidt, Hartmut ; Waddington-Cruz, Márcia ; Campistol, Josep M ; Bettencourt, Brian R ; Vaishnaw, Akshay ; Gollob, Jared ; Adams, David

Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.109-109, Article 109 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Baumgartner, Matthias R ; Hörster, Friederike ; Dionisi-Vici, Carlo ; Haliloglu, Goknur ; Karall, Daniela ; Chapman, Kimberly A ; Huemer, Martina ; Hochuli, Michel ; Assoun, Murielle ; Ballhausen, Diana ; Burlina, Alberto ; Fowler, Brian ; Grünert, Sarah C ; Grünewald, Stephanie ; Honzik, Tomas ; Merinero, Begoña ; Pérez-Cerdá, Celia ; Scholl-Bürgi, Sabine ; Skovby, Flemming ; Wijburg, Frits ; MacDonald, Anita ; Martinelli, Diego ; Sass, Jörn Oliver ; Valayannopoulos, Vassili ; Chakrapani, Anupam

Orphanet journal of rare diseases, 2014-09, Vol.9 (1), p.130-130, Article 130 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study
Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study
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Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study

Hammer, Jennifer ; Seront, Emmanuel ; Duez, Steven ; Dupont, Sophie ; Van Damme, An ; Schmitz, Sandra ; Hoyoux, Claire ; Chopinet, Caroline ; Clapuyt, Philippe ; Hammer, Frank ; Vikkula, Miikka ; Boon, Laurence M

Orphanet journal of rare diseases, 2018-10, Vol.13 (1), p.191-191, Article 191 [Periódico revisado por pares]

England: BioMed Central Ltd

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