Last Updated: 09/26/2026
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Found 26 publications
Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine open
Published: September 29, 2025
Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine open
Published: July 07, 2025
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.
Journal: Genetics in medicine open
Published: March 10, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Journal: Annals of neurology
Published: March 04, 2025
Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: December 23, 2024
Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 05, 2024
3-hour genome sequencing and targeted analysis to rapidly assess genetic risk.
Journal: Genetics in medicine open
Published: October 18, 2024
Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy.
Journal: Metabolites
Published: September 20, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Journal: Molecular genetics and metabolism
Published: April 15, 2024
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Journal: Journal of inherited metabolic disease
Published: December 16, 2022
Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant.
Journal: Journal of movement disorders
Published: December 31, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Journal: JAMA neurology
Published: August 30, 2021
Last Updated: 09/26/2026