Last Updated: 09/26/2026
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Found 19 publications
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.
Journal: American journal of medical genetics. Part A
Published: August 09, 2021
An Intriguing Case of Acute Left-Sided Weakness in a 4-Year-Old Boy.
Journal: Clinical pediatrics
Published: July 12, 2021
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.
Journal: American journal of medical genetics. Part A
Published: March 04, 2021
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Journal: Molecular genetics and metabolism
Published: September 08, 2020
Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings.
Journal: European journal of medical genetics
Published: May 14, 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
A 77-year-old Woman with a Right Cerebellar Lesion.
Journal: Brain pathology (Zurich, Switzerland)
Published: July 11, 2019
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
Journal: Journal of inherited metabolic disease
Published: February 12, 2019
Risk Factors for Dysphagia Following a Cervical Fusion in a Trauma Population.
Journal: Cureus
Published: January 08, 2019
Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan.
Journal: Journal of pediatric genetics
Published: December 28, 2018
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Journal: JCI insight
Published: September 16, 2016
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders.
Journal: Molecular genetics and metabolism
Published: June 28, 2016
Last Updated: 09/26/2026