Screening for Pompe disease in a Portuguese high risk population

Highlights • Pompe disease (PD) is a rare metabolic disorder with available therapy. • Dried blood spots are a reliable method to screen for PD. • PD was screened in high risk patients followed in Portuguese neuromuscular clinics. • Four new cases of Pompe disease were identified. • The typical hall...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2017-08, Vol.27 (8), p.777-781
Hauptverfasser:	Almeida, Vânia, Conceição, Isabel, Fineza, Isabel, Coelho, Teresa, Silveira, Fernando, Santos, Manuela, Valverde, Ana, Geraldo, Argemiro, Maré, Ricardo, Aguiar, Teresa Carolina, Mendonça, Carla, Martins, João, Medeiros, Luísa, Barroso, Cândida, Vieira, José Pedro, Moreno, Teresa, Negrão, Luis, Dias, Margarida Silva, Lacerda, Lúcia, Evangelista, Teresinha
Format:	Artikel
Sprache:	eng
Schlagworte:	Acid α-glucosidase deficiency Adolescent Adult Age of Onset Aged Aged, 80 and over Ambulatory Care Child Child, Preschool Dried blood spot Dried Blood Spot Testing Female Glycogen Storage Disease Type II - diagnosis Glycogen Storage Disease Type II - physiopathology High risk population screening Humans Male Middle Aged Muscle Weakness - diagnosis Muscle Weakness - physiopathology Neurology Pompe disease Portugal Prospective Studies Risk Young Adult
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Zusammenfassung:	Highlights • Pompe disease (PD) is a rare metabolic disorder with available therapy. • Dried blood spots are a reliable method to screen for PD. • PD was screened in high risk patients followed in Portuguese neuromuscular clinics. • Four new cases of Pompe disease were identified. • The typical hallmarks of the disease were missing in some patients.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2017.03.010