Last Updated: 09/26/2026
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Found 22 publications
Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns.
Journal: Molecular genetics and metabolism reports
Published: December 17, 2025
Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.
Journal: International journal of neonatal screening
Published: October 27, 2025
Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.
Journal: Frontiers in immunology
Published: October 20, 2025
Expanding the phenotype associated with biallelic SCNM1 variants.
Journal: Human genomics
Published: July 24, 2025
HMGCR-related muscular dystrophy: a case of severe neonatal-onset form.
Journal: Neuromuscular disorders : NMD
Published: May 31, 2025
Case report: Lysine improvement in siblings with glutaric acidemia type 1 following reduced medical food intake: Implications for amino acid absorption and reabsorption.
Journal: Molecular genetics and metabolism reports
Published: May 21, 2025
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.
Journal: Molecular genetics and metabolism reports
Published: April 14, 2025
A clinical and genotype-phenotype analysis of MACF1 variants.
Journal: American journal of human genetics
Published: January 10, 2025
Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.
Journal: American journal of medical genetics. Part A
Published: September 09, 2024
Subtelomeric microdeletion in chromosome 20p13 associated with short stature.
Journal: Clinical case reports
Published: March 20, 2024
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.
Journal: Molecular genetics and metabolism reports
Published: January 04, 2024
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.
Journal: Molecular genetics and metabolism reports
Published: August 17, 2023
Last Updated: 09/26/2026