Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications
Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board.
Journal: Prenatal diagnosis
Published: September 11, 2025
Causes of mortality in the congenital disorders of glycosylation.
Journal: Molecular genetics and metabolism
Published: December 05, 2024
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Journal: Journal of inherited metabolic disease
Published: June 09, 2022
A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic.
Journal: Clinical chemistry
Published: November 08, 2021
Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome.
Journal: Clinical chemistry
Published: March 10, 2021
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.
Journal: International journal of neonatal screening
Published: August 25, 2020
Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males.
Journal: Clinical chemistry
Published: January 23, 2020
Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex.
Journal: The Journal of biological chemistry
Published: March 31, 2019
Neurological Complications following Blood Transfusions in Sickle Cell Anemia.
Journal: Case reports in hematology
Published: August 02, 2016
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
Journal: Human molecular genetics
Published: November 27, 2014
Showing 1-12 of 12
Last Updated: 09/26/2026