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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain, 143(8), 2437–2453. https://doi.org/10.1093/brain/awaa204

Publication: Journal Article

“Biallelic MADD Variants Cause a Phenotypic Spectrum Ranging from Developmental Delay to a Multisystem Disorder. Brain, 143(8), 2437–2453. Https://Doi.org/10.1093/Brain/Awaa204”. 2020. Brain.

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A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease

News: June 05, 2020

A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With...

Phatcharapon Tulyakul

Person: RN, PhD

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Blog: June 04, 2024

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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.

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...

Maria Gomez

Person: NCMA, CRA-USF Advanced

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