Last Updated: 09/26/2026
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Found 8 publications
Nutrition in Pediatric Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD).
Journal: Journal of nutrition and metabolism
Published: February 02, 2026
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.
Journal: American journal of medical genetics. Part A
Published: March 23, 2025
Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
Journal: Molecular genetics & genomic medicine
Published: May 16, 2023
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Journal: Molecular genetics and metabolism
Published: April 04, 2023
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.
Journal: Children (Basel, Switzerland)
Published: November 13, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Journal: American journal of medical genetics. Part A
Published: May 05, 2022
Delivering a new diagnosis of Down syndrome: Parent experience.
Journal: American journal of medical genetics. Part A
Published: April 27, 2020
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Last Updated: 09/26/2026