Last Updated: 09/26/2026
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Found 18 publications
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Journal: International journal of neonatal screening
Published: January 22, 2025
Liver Transplant From a Deceased Donor With Cystinosis: A Case Report.
Journal: JIMD reports
Published: August 12, 2024
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria.
Journal: JIMD reports
Published: February 15, 2024
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.
Journal: JIMD reports
Published: May 16, 2023
Euglycemic diabetic ketoacidosis related to SGLT2 inhibitor use in a patient with cobalamin C deficiency and diabetes.
Journal: Annals of internal medicine. Clinical cases
Published: January 01, 2023
2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Journal: Molecular genetics and metabolism
Published: December 09, 2022
Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease.
Journal: Circulation. Genomic and precision medicine
Published: November 09, 2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Journal: Molecular genetics and metabolism reports
Published: October 17, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Journal: Pediatrics
Published: April 01, 2022
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 10, 2021
50 Years Ago in TheJournalofPediatrics: I-Cell Disease: The More Things Change, the More They Stay the Same.
Journal: The Journal of pediatrics
Published: August 27, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Journal: American journal of human genetics
Published: May 01, 2021
Last Updated: 09/26/2026