Last Updated: 09/26/2026
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Found 31 publications
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.
Journal: Molecular genetics and metabolism
Published: November 25, 2025
Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study.
Journal: JIMD reports
Published: November 19, 2025
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
Journal: HGG advances
Published: November 02, 2025
Mitochondrial Dysfunction in Propionic Acidemia: A Case-Report and Review of the Literature.
Journal: JIMD reports
Published: August 04, 2025
Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.
Journal: Neurology
Published: March 06, 2025
Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.
Journal: Orphanet journal of rare diseases
Published: December 23, 2024
Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 18, 2024
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet.
Journal: American journal of medical genetics. Part A
Published: April 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Journal: medRxiv : the preprint server for health sciences
Published: February 14, 2024
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program.
Journal: Molecular genetics and metabolism
Published: December 18, 2023
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Journal: American journal of human genetics
Published: November 01, 2023
Last Updated: 09/26/2026