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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Detalles Bibliográficos
Autores principales: 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-
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696316/
https://www.ncbi.nlm.nih.gov/pubmed/26714856
http://dx.doi.org/10.1186/s13023-015-0376-9

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