Identification and functional characterization of GAA mutations in Colombian patients affected by pompe disease

JIMD Reports

Volumn 7, Issue , 2013, Pages 39-48

  Niño, Mónica Yasmín ^a,b   Mateus, Heidi Eliana ^a   Fonseca, Dora Janeth ^a   Kroos, Marian A ^b   Ospina, Sandra Yaneth ^a   Mejía, Juan Fernando ^c   Uribe, Jesús Alfredo ^d   Reuser, Arnold J J ^b   Laissue, Paul ^a  

^a UNIVERSIDAD DEL ROSARIO   (Colombia)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c FUNDACIÓN VALLE DEL LILI   (Colombia)

^d UNIVERSIDAD DE LOS ANDES   (Colombia)

Author keywords

Colombian population; Delay motor development; Infantile pompe disease; Pompe disease; Potential deleterious effect

Indexed keywords

EID: 84903897490     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_138     Document Type: Chapter

References (30)

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