Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort
Eduardo Gutiérrez‐Rivas(Research Institute Hospital 12 de Octubre), Zoltán Lukács(Universität Hamburg), Nuria Muelas(Hospital Universitari i Politècnic La Fe), Isabel Illa(Hospital de Sant Pau), Luís Jiménez(Universidad Nacional Autónoma de México), Jesús Solera(Hospital Universitario La Paz), Jordi Díaz‐Manera(Hospital de Sant Pau), Montse Olivé(Universitat Autònoma de Barcelona), Juan J. Vílchez(Universitat de València), Roberto Fernández‐Torrón(Biogipuzkoa Health Research Institute), J. Bautista(Hospital Quirónsalud Sagrado Corazón), Amaia Martínez-Arroyo(Institut d'Investigació Biomédica de Bellvitge), Adolfo López de Munaín(Instituto de Salud Carlos III), Iván Sanz-Muñoz(Hospital Universitario La Paz), Javier Arpa(Hospital Universitario La Paz)
Cited by 59
Related Papers
Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia
|Annals of Neurology|2010|728
A multicentre validation study of the diagnostic value of plasma neurofilament light
|Nature Communications|2021|554
Distinct muscle imaging patterns in myofibrillar myopathies
|Neurology|2008|260
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
|The American Journal of Human Genetics|2010|159