Last Updated: 09/26/2026
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Found 10 publications
Heritability of Long-Term Complications in Classic Galactosemia.
Journal: Journal of inherited metabolic disease
Published: December 19, 2025
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Journal: American journal of medical genetics. Part A
Published: March 31, 2023
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.
Journal: American journal of medical genetics. Part A
Published: August 09, 2021
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.
Journal: European journal of medical genetics
Published: October 19, 2020
A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
Journal: American journal of medical genetics. Part A
Published: May 11, 2020
An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus-6 infection, and hemophagocytic syndrome: What are the links?
Journal: Pediatric blood & cancer
Published: May 03, 2020
Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency.
Journal: Neuropediatrics
Published: November 26, 2019
The Current State of Newborn Screening in the United States.
Journal: Pediatric clinics of North America
Published: March 02, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026