Pages that link to "Q80776572"

The following pages link to p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? (Q80776572):

Displaying 18 items.

• Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease (Q33626787) (← links)
• Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil (Q33875054) (← links)
• Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles (Q33889736) (← links)
• Pompe disease: literature review and case series (Q35029971) (← links)
• Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening (Q35848728) (← links)
• Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots (Q45723037) (← links)
• A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan (Q47109353) (← links)
• Rapid progressive course of later-onset Pompe disease in Chinese patients (Q51021056) (← links)
• Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system. (Q53427899) (← links)
• Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center (Q57798439) (← links)
• Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients (Q62554837) (← links)
• Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program (Q62723342) (← links)
• Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis (Q89769526) (← links)
• Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand (Q90066296) (← links)
• Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients (Q91931416) (← links)
• GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry (Q92163577) (← links)
• Newborn screening: Taiwanese experience (Q92487781) (← links)
• Extension of the Pompe mutation database by linking disease-associated variants to clinical severity (Q93120404) (← links)