Last Updated: 09/26/2026
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Found 20 publications
STRADA deficiency impairs cortical interneuron development in humans and mice.
Journal: bioRxiv : the preprint server for biology
Published: April 10, 2026
Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease.
Journal: Cell reports. Medicine
Published: December 22, 2025
Antenatal diagnosis and maternal sirolimus treatment of polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome.
Journal: Pregnancy (Hoboken, N.J.)
Published: November 21, 2025
Hypotonia and Failure to Thrive in an 8-month-old Infant.
Journal: Pediatrics in review
Published: October 31, 2023
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Journal: Annals of clinical and translational neurology
Published: May 12, 2023
NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
Journal: Brain : a journal of neurology
Published: August 16, 2021
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Journal: Molecular genetics and metabolism
Published: July 27, 2020
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Journal: American journal of human genetics
Published: May 29, 2020
Chronic Meningitis Due to Prototheca zopfii in an Adolescent Girl.
Journal: Journal of the Pediatric Infectious Diseases Society
Published: March 20, 2020
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Journal: Molecular genetics and metabolism
Published: December 01, 2019
Last Updated: 09/26/2026