Associated Papers
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.
Kaler SG et al.
Molecular Genetics and Metabolism, 2026
Diagnostic evaluation of patients with epileptic spasms in the era of next-generation sequencing.
Mir A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Changes in body weight and height in survivors of Menkes disease.
Gu YH et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.
Kaler SG et al.
Annals of Neurology, 2009
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