Last Updated: 09/26/2026
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Found 15 publications
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.
Journal: Journal of inherited metabolic disease
Published: September 03, 2025
New treatments, novel conversations: A need to study the science of communication about treatment options for inborn errors of metabolism.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 03, 2025
Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.
Journal: Journal of inherited metabolic disease
Published: May 24, 2025
Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis.
Journal: Molecular genetics and metabolism
Published: March 02, 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
Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease.
Journal: HGG advances
Published: December 06, 2024
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
Journal: NPJ genomic medicine
Published: September 18, 2024
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Journal: Orphanet journal of rare diseases
Published: March 14, 2023
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Journal: Pediatric neurology
Published: November 21, 2022
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Journal: Orphanet journal of rare diseases
Published: August 26, 2022
A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy.
Journal: American journal of medical genetics. Part A
Published: December 27, 2021
Neuropsychiatric features of Prader-Willi syndrome.
Journal: American journal of medical genetics. Part A
Published: June 21, 2021
Last Updated: 09/26/2026