Results 91 to 100 of about 8,917 (217)

Pompe Disease [PDF]

open access: yesNeurologic Clinics, 2014
Majed Dasouki   +8 more
openaire   +1 more source

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children [PDF]

open access: gold, 2020
Angela Galeotti   +7 more
openalex   +1 more source

No good choices, only hard decisions: the delicate nature of team family communication in pompe disease [PDF]

open access: diamond
Míriam Neis   +6 more
openalex   +1 more source

High-risk screening of late-onset Pompe disease: A different early portrait in China [PDF]

open access: gold, 2022
Kexin Jiao   +30 more
openalex   +1 more source

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records [PDF]

open access: gold
Jaloliddin Rustamov   +6 more
openalex   +1 more source

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

open access: yesBMC Pediatrics
Background Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues.
Yasaman Alizadeh   +3 more
doaj   +1 more source

Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease [PDF]

open access: hybrid, 2019
Yueh-Hui Lee   +6 more
openalex   +1 more source

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