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Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. American journal of medical genetics. Part A, 179(9), 1783–1790.

Publication: Journal Article

“Expanding Phenotype With Severe Midline Brain Anomalies and Missense Variant Supports a Causal Role for FOXA2 in 20p11.2 Deletion Syndrome. American Journal of Medical Genetics. Part A, 179(9), 1783–1790.”. 2019. American Journal of Medical Genetics.

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Blog: June 04, 2024

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Maria Gomez

Person: NCMA, CRA-USF Advanced

add Cv

Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)-UX007-CL401

News: September 25, 2024

Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program ClinicalTrials.gov ID NCT04632953 Sponsor Ultragenyx Pharmaceutical Inc Information provided by Ultragenyx Pharmaceutical Inc (Responsible Party) Last Update Posted 2024-08-29 Study Overview The primary objective of this...

Kara Morgan

Person: DNP, APRN, CGC

Genetics Metabolism

Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. Journal of inherited metabolic disease, 44(1), 253–263. https://doi.org/10.1002/jimd.12313

Publication: Journal Article

“Effects of Triheptanoin (UX007) in Patients With Long-Chain Fatty Acid Oxidation Disorders: Results from an Open-Label, Long-Term Extension Study. Journal of Inherited Metabolic Disease, 44(1), 253–263. Https://Doi.org/10.1002/Jimd.12313”. 2021. Journal of Inherited Metabolic Disease.

Prolonged clonazepam-induced withdrawal symptoms in an NAT2 ultraslow acetylator. Pharmacogenomics, 20(2), 69–73. https://doi.org/10.2217/pgs-2018-0145

Publication: Journal Article

“Prolonged Clonazepam-Induced Withdrawal Symptoms in an NAT2 Ultraslow Acetylator. Pharmacogenomics, 20(2), 69–73. Https://Doi.org/10.2217/Pgs-2018-0145”. 2019. Journal of Iaculis Nisl Facilisis Malesuada Maecenas.

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). Journal of inherited metabolic disease, 42(1), 169–177.

Publication: Journal Article

“Results from a 78-Week, Single-Arm, Open-Label Phase 2 Study to Evaluate UX007 in Pediatric and Adult Patients With Severe Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD). Journal of Inherited Metabolic Disease, 42(1), 169–177.”. 2019. Journal of Inherited Metabolic Disease.