Associated Papers
Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.
Urbanski AH et al.
Journal of Medical Virology, 2025
40817859 (PubMed )
Supplement: JMV-97-e70556-s002.docx
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
38664407 (PubMed )
Supplement: 41531_2024_703_MOESM1_ESM.pdf
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A et al.
Genes, 2024
38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A et al.
Molecular Genetics and Metabolism Reports, 2023
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.
Journal of Neuromuscular Diseases, 2022
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 2020
The First Year Experience of Newborn Screening for Pompe Disease in California.
Tang H et al.
International Journal of Neonatal Screening, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity.
Adhikari AN
Human Mutation, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 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
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A et al.
Jimd Reports, 2015
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
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