Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Mauri A et al.
Frontiers in Genetics, 2023
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L et al.
Orphanet Journal of Rare Diseases, 2020
Targeted next generation sequencing for newborn screening of Menkes disease.
Parad RB et al.
Molecular Genetics and Metabolism Reports, 2020
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.
Mhaske A et al.
Computational and Structural Biotechnology Journal, 2020
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
Woodfin T et al.
Molecular Genetics & Genomic Medicine, 2019
Urological Problems in Patients with Menkes Disease.
Kim MY et al.
Journal of Korean Medical Science, 2019
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
de Gemmis P et al.
Metabolic Brain Disease, 2017
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
Kim JH et al.
Metabolic Brain Disease, 2015
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
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
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Kaler SG et al.
Journal of Inherited Metabolic Disease, 2010
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.
Kaler SG et al.
Annals of Neurology, 2009
Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test.
Møller LB et al.
Clinical Medicine. Pathology, 2008