Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Goomber S et al.
Frontiers in Genetics, 2022
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 2020
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton BK et al.
International Journal of Neonatal Screening, 2020
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño MY et al.
Human Mutation, 2019
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.
Burlina AB et al.
International Journal of Neonatal Screening, 2019
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Tortorelli S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N et al.
Clinical Chemistry, 2017
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M et al.
Human Mutation, 2012