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
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
Kaler SG
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014
Increased frequency of congenital heart defects in Menkes disease.
Hicks JD et al.
Clinical Dysmorphology, 2012
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Kaler SG et al.
Journal of Inherited Metabolic Disease, 2010
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