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Refinado por: Base de dados/Biblioteca: BACON - Mir@bel - GLOBAL_LIBRESACCES remover Nome da Publicação: Orphanet Journal Of Rare Diseases remover
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11
Malignant hyperthermia: a review
Malignant hyperthermia: a review
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Malignant hyperthermia: a review

Rosenberg, Henry ; Pollock, Neil ; Schiemann, Anja ; Bulger, Terasa ; Stowell, Kathryn

Orphanet journal of rare diseases, 2015-08, Vol.10 (1), p.93-93, Article 93 [Periódico revisado por pares]

England: BioMed Central Ltd

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12
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review
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Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review

Verhaart, Ingrid E C ; Robertson, Agata ; Wilson, Ian J ; Aartsma-Rus, Annemieke ; Cameron, Shona ; Jones, Cynthia C ; Cook, Suzanne F ; Lochmüller, Hanns

Orphanet journal of rare diseases, 2017-07, Vol.12 (1), p.124-124, Article 124 [Periódico revisado por pares]

England: BioMed Central Ltd

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13
Patient reported outcome measures in rare diseases: a narrative review
Patient reported outcome measures in rare diseases: a narrative review
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Patient reported outcome measures in rare diseases: a narrative review

Slade, Anita ; Isa, Fatima ; Kyte, Derek ; Pankhurst, Tanya ; Kerecuk, Larissa ; Ferguson, James ; Lipkin, Graham ; Calvert, Melanie

Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.61-61, Article 61 [Periódico revisado por pares]

England: BioMed Central Ltd

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14
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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15
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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16
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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17
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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18
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
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Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Javaid, Muhammad Kassim ; Boyce, Alison ; Appelman-Dijkstra, Natasha ; Ong, Juling ; Defabianis, Patrizia ; Offiah, Amaka ; Arundel, Paul ; Shaw, Nick ; Pos, Valter Dal ; Underhil, Ann ; Portero, Deanna ; Heral, Lisa ; Heegaard, Anne-Marie ; Masi, Laura ; Monsell, Fergal ; Stanton, Robert ; Dijkstra, Pieter Durk Sander ; Brandi, Maria Luisa ; Chapurlat, Roland ; Hamdy, Neveen Agnes Therese ; Collins, Michael Terrence

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.139-17, Article 139 [Periódico revisado por pares]

England: BioMed Central Ltd

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19
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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20
Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies
Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies
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Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies

Aygören-Pürsün, Emel ; Magerl, Markus ; Maetzel, Andreas ; Maurer, Marcus

Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.73-73, Article 73 [Periódico revisado por pares]

England: BioMed Central Ltd

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