prikaz prve stranice dokumenta Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
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Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Orphanet Journal of Rare Diseases, 10 (2015); 164. https://doi.org/10.1186/s13023-015-0376-9
Cassis, Linda; Cortès-Saladelafont, Elisenda; Molero-Luis, Marta; Yubero, Delia; González, Maria Julieta; Herrero, Aida Ormazabal; Fons, Carme; Jou, Cristina; Sierra, Cristina; Castejon Ponce, Esperanza; Ramos, Federico; Armstrong, Judith; O’Callaghan, M. Mar; Casado, Mercedes; Montero, Raquel; Olivas, Silvia Maria Meavilla; Artuch, Rafael; Barić, Ivo; Bartoloni, Franco; Bellettato, Cinzia Maria; Bonifazi, Fedele; Ceci, Adriana; Cvitanović-Šojat, Ljerka; Dali, Christine I; D’Avanzo, Francesca; Fumić, Ksenija; Giannuzzi, Viviana; Lampe, Christina; Scarpa, Maurizio; Garcia-Cazorla, Ángels Više autora...

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Cassis, L., Cortès Saladelafont, E., Molero Luis, M., Yubero, D., González, M. J., Herrero, A. O. ... Garcia Cazorla, Á. (2015). Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet Journal of Rare Diseases, 10., 164. doi: 10.1186/s13023-015-0376-9

Cassis, Linda, et al. "Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders." Orphanet Journal of Rare Diseases, vol. 10, 2015, str. 164. https://doi.org/10.1186/s13023-015-0376-9

Cassis, Linda, Elisenda Cortès Saladelafont, Marta Molero Luis, Delia Yubero, Maria Julieta González, Aida Ormazabal Herrero, Carme Fons, et al. "Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders." Orphanet Journal of Rare Diseases 10 (2015): 164. https://doi.org/10.1186/s13023-015-0376-9

Cassis, L., et al. (2015) 'Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders', Orphanet Journal of Rare Diseases, 10, str. 164. doi: 10.1186/s13023-015-0376-9

Cassis L, Cortès Saladelafont E, Molero Luis M, Yubero D, González MJ, Herrero AO, i sur.. Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet Journal of Rare Diseases [Internet]. 30.12.2015. [pristupljeno 13.10.2024.];10:164. doi: 10.1186/s13023-015-0376-9

L. Cassis, et al., "Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders", Orphanet Journal of Rare Diseases, vol. 10, str. 164, Prosinac 2015. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:841271. [Citirano: 13.10.2024.]

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Naslov (engleski)Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
AutorLinda Cassis
AutorElisenda Cortès-Saladelafont
AutorMarta Molero-Luis
AutorDelia Yubero
AutorMaria Julieta González
AutorAida Ormazabal Herrero
AutorCarme Fons
AutorCristina Jou
AutorCristina Sierra
AutorEsperanza Castejon Ponce
AutorFederico Ramos
AutorJudith Armstrong
AutorM. Mar O’Callaghan
AutorMercedes Casado
AutorRaquel Montero
AutorSilvia Maria Meavilla Olivas
AutorRafael Artuch
AutorIvo Barić
AutorFranco Bartoloni
AutorCinzia Maria Bellettato
AutorFedele Bonifazi
AutorAdriana Ceci
AutorLjerka Cvitanović-Šojat
AutorChristine I Dali
AutorFrancesca D’Avanzo
AutorKsenija Fumić
AutorViviana Giannuzzi
AutorChristina Lampe
AutorMaurizio Scarpa
AutorÁngels Garcia-Cazorla
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
BACKGROUND: Inherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the first months/years of age or even later in adulthood. Early diagnosis and timely treatments are often pivotal for the favorable course of the disease. Thus, the elaboration of new evidence-based recommendations for iNMD diagnosis and management is increasingly requested by health care professionals and patients, even though the methodological quality of existing guidelines is largely unclear. InNerMeD-I-Network is the first European network on iNMDs that was created with the aim of sharing and increasing validated information about diagnosis and management of neurometabolic disorders. One of the goals of the project was to determine the number and the methodological quality of existing guidelines and recommendations for iNMDs. ----- METHODS: We performed a systematic search on PubMed, the National Guideline Clearinghouse (NGC), the Guidelines International Network (G-I-N), the Scottish Intercollegiate Guideline Network (SIGN) and the National Institute for Health and Care Excellence (NICE) to identify all the published guidelines and recommendations for iNMDs from January 2000 to June 2015. The methodological quality of the selected documents was determined using the AGREE II instrument, an appraisal tool composed of 6 domains covering 23 key items. ----- RESULTS: A total of 55 records met the inclusion criteria, 11 % were about groups of disorders, whereas the majority encompassed only one disorder. Lysosomal disorders, and in particular Fabry, Gaucher disease and mucopolysaccharidoses where the most studied. The overall methodological quality of the recommendation was acceptable and increased over time, with 25 % of the identified guidelines strongly recommended by the appraisers, 64 % recommended, and 11 % not recommended. However, heterogeneity in the obtained scores for each domain was observed among documents covering different groups of disorders and some domains like 'stakeholder involvement' and 'applicability' were generally scarcely addressed. ----- CONCLUSIONS: Greater efforts should be devoted to improve the methodological quality of guidelines and recommendations for iNMDs and AGREE II instrument seems advisable for new guideline development. The elaboration of new guidelines encompassing still uncovered disorders is badly needed.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaOrphanet Journal of Rare Diseases
Brojčani podacivol. 10, str. 164
p-ISSN1750-1172
DOIhttps://doi.org/10.1186/s13023-015-0376-9
URN:NBNurn:nbn:hr:105:841271
Datum objave publikacije2015-12-30
URL dokumentahttps://doi.org/10.1186/s13023-015-0376-9
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-28 08:34:24