Effectiveness of an image analyzing AI-based Digital Health Technology to identify Non-Melanoma Skin Cancer and other skin lesions: results of the DERM-003 studyFRONTIERS IN MEDICINEIF32023-10-065OAAI
Progressive papulonodular eruption following COVID-19 infection: a rare diagnosis and review of the literatureBRITISH JOURNAL OF DERMATOLOGYIF9.62023-06-260OA
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resourceMOLECULAR GENETICS AND METABOLISMIF3.52023-03-0120PRE
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literatureMOLECULAR GENETICS AND METABOLISMIF3.52021-11-015OAAI
Targeted long-read sequencing identifies missing disease-causing variationAMERICAN JOURNAL OF HUMAN GENETICSIF8.12021-08-01137OAAI
Functional analysis and clinical curation of human acid alpha glucosidase (GAA) variants of unknown significance (VUS) screened from infants diagnosed with Pompe disease via newborn screening (NBS)MOLECULAR GENETICS AND METABOLISMIF3.52021-02-010PREAI
Early diagnosis and treatment of infantile-onset Pompe disease via newborn screenMOLECULAR GENETICS AND METABOLISMIF3.52021-02-010PREAI
Novel approaches to quantify CNS involvement in children with Pompe diseaseNEUROLOGYIF8.52020-08-1115OAAI
Extended treatment with VAL-1221, a novel protein targeting cytoplasmic glycogen, in patients with late-onset Pompe diseaseMOLECULAR GENETICS AND METABOLISMIF3.52020-02-010PREAI
Whole-body MRI in late-onset Pompe disease: Clinical utility and correlation with functional measuresMOLECULAR GENETICS AND METABOLISMIF3.52020-02-011PREAI
Complicated cases and the need for individualized follow up plans for children diagnosed with Pompe disease via newborn screeningMOLECULAR GENETICS AND METABOLISMIF3.52020-02-010PREAI
A new look at an old disease: Is Pompe disease a neuromuscular disorder with CNS involvement?MOLECULAR GENETICS AND METABOLISMIF3.52020-02-010PREAI
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoringGENETICS IN MEDICINEIF6.22019-12-0130OAAI
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)GENETICS IN MEDICINEIF6.22019-04-0183OAAI
Parent report of school functioning and behavior in children with Pompe diseaseMOLECULAR GENETICS AND METABOLISMIF3.52019-02-010PREAI
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variantMOLECULAR GENETICS AND METABOLISMIF3.52019-02-0114OAAI
Quantitative evaluation of white matter hyperintensities in the central nervous system in infantile Pompe diseaseMOLECULAR GENETICS AND METABOLISMIF3.52019-02-011PREAI
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T>G variantMOLECULAR GENETICS AND METABOLISMIF3.52019-02-010PREAI
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