Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population

Pompe disease is an autosomal recessive metabolic disorder caused by acid alpha-glucosidase (GAA) deficiency. The use of umbilical cord blood (UCB) for newborn screening (NBS) of Pompe disease, compared to heel-prick sampling, has not been widely studied. This study compared GAA activity in UCB from...

Descripció completa

Dades bibliogràfiques

Autors principals:	Fook-Choe Cheah, Sharifah Azween Syed Omar, Jasmine Lee, Zheng Jiet Ang, Anu Ratha Gopal, Wan Nurulhuda Wan Md Zin, Beng Kwang Ng, Shu-Chuan Chiang, Yin-Hsiu Chien
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2025-09-01
Col·lecció:	International Journal of Neonatal Screening
Matèries:	infantile-onset Pompe disease late-onset Pompe disease acid alpha-glucosidase umbilical cord blood newborn screening pseudodeficiency allele
Accés en línia:	https://www.mdpi.com/2409-515X/11/3/74
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!