Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

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 timel...

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Published in:Orphanet J Rare Dis
Main Authors: 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, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Cazorla, Ángels Garcia-
Format: Artigo
Language:Inglês
Published: BioMed Central 2015
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Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4696316/
https://ncbi.nlm.nih.gov/pubmed/26714856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0376-9
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