Last Updated: 09/26/2026
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Found 53 publications
Prenatal Diagnosis of a Splice-Site Variant in UBA2: Expanding the Clinical Spectrum of UBA2-Related Disease.
Journal: American journal of medical genetics. Part A
Published: May 20, 2026
Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease.
Journal: The Journal of clinical investigation
Published: February 16, 2026
Safety and efficacy of droxidopa for dysautonomia in adults with Menkes disease and occipital horn syndrome in the USA: a randomised phase 1/2a crossover trial.
Journal: EClinicalMedicine
Published: November 20, 2025
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.
Journal: Molecular genetics and metabolism
Published: October 31, 2025
Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female.
Journal: Molecular genetics and metabolism reports
Published: May 20, 2025
Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant.
Journal: Molecular genetics and metabolism
Published: December 09, 2024
Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease.
Journal: Human molecular genetics
Published: January 02, 2024
Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.
Journal: Molecular genetics & genomic medicine
Published: December 09, 2023
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Journal: Human molecular genetics
Published: April 11, 2022
Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
Journal: JPGN reports
Published: April 07, 2022
Last Updated: 09/26/2026