Shawn E. Mccandless

Medical Genetics | Pediatrics

13123 E 16th Ave
Aurora, CO 80045

Last Updated: 09/26/2026

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Found 59 publications

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal: Journal of inherited metabolic disease

Published: April 29, 2026

Carbetocin Nasal Spray for the Treatment of Hyperphagia in Prader-Willi Syndrome: Results From the Randomized, Placebo-Controlled, Phase 3 Compass PWS Study.

Carbetocin Nasal Spray for the Treatment of Hyperphagia in Prader-Willi Syndrome: Results From the Randomized, Placebo-Controlled, Phase 3 Compass PWS Study.

Journal: Clinical therapeutics

Published: April 23, 2026

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia.

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia.

Journal: JIMD reports

Published: September 22, 2025

Timeliness of reporting NBS results for Krabbe disease.

Timeliness of reporting NBS results for Krabbe disease.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 07, 2025

ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.

ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.

Journal: Mitochondrion

Published: January 03, 2024

Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study.

Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study.

Journal: Journal of neurodevelopmental disorders

Published: September 30, 2023

Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria.

Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria.

Journal: The Journal of pediatrics

Published: November 23, 2022

Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example.

Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example.

Journal: Prenatal diagnosis

Published: October 03, 2022

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 30, 2022

Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader-Willi Syndrome.

Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader-Willi Syndrome.

Journal: Journal of clinical medicine

Published: March 02, 2022

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 25, 2022

A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis.

A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis.

Journal: Molecular genetics and metabolism reports

Published: September 22, 2021

Showing 1-12 of 59

Last Updated: 09/26/2026