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

Author:

Gutiérrez-Rivas E.,Bautista J.,Vílchez J.J.,Muelas N.,Díaz-Manera J.,Illa I.,Martínez-Arroyo A.,Olivé M.,Sanz I.,Arpa J.ORCID,Fernández-Torrón R.,López de Munáin A.,Jiménez L.,Solera J.,Lukacs Z.

Funder

Genzyme Spain

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference32 articles.

1. Diagnostic criteria for late-onset (childhood and adult) Pompe disease;American Association of Neuromuscular & Electrodiagnostic Medicine;Muscle Nerve,2009

2. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;Kishnani;J Pediatr,2006

3. Glycogen storage disease type II: acid alphaglucosidase (acid maltase) deficiency;Hirschhorn,2001

4. Prevalence of lysosomal storage diseases in Portugal;Pinto;Eur J Hum Genet,2004

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