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1. A new D‐galactose treatment monitoring index for PGM1‐CDG. Issue 5 (22nd June 2021)

2. Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. Issue 6 (11th September 2017)

3. Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria. Issue 1 (20th November 2020)

4. Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation. Issue 1 (15th June 2021)

5. Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2. Issue 5 (5th February 2021)

6. Disease‐Causing Mitochondrial Heteroplasmy Segregated Within Induced Pluripotent Stem Cell Clones Derived from a Patient with MELAS123. (5th July 2013)

7. Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature. Issue 1 (12th October 2020)

8. Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease. Issue 5 (12th March 2015)

9. Mitochondrial DNA sequence data reveals association of haplogroup U with psychosis in bipolar disorder. (January 2017)

10. Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. (August 2018)