• A reversible and ratiometric fluorescent probe based on rhodol derivative with an ESIPT unit for monitoring copper ion content and in situ evaluation of related drugs in cells
• Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease
• ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes
• Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain
• Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review
• Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene
• Copper in Gynecological Diseases
• Copper-histidine therapy in an infant with novel splice-site variant in the <em>ATP7A</em> gene of Menkes disease: the first experience in South East Asia and literature review
• Decreased Expression of the <em>Slc31a1</em> Gene and Cytoplasmic Relocalization of Membrane CTR1 Protein in Renal Epithelial Cells: A Potent Protective Mechanism against Copper Nephrotoxicity in a Mouse Model of Menkes Disease
• Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
• Desenvolvimento de kinky hair na doença de Menkes
• Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
• Ethics in pre-ART genetics: a missed X-linked Menkes disease case
• Evaluation of hair structural abnormalities in children with different neurological diseases
• Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1
• Genetic etiology of progressive pediatric neurological disorders
• Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease
• Hyaluronic Acid and Radiofrequency in Patients with Urogenital Atrophy and Vaginal Laxity
• Incomplete Anterior Spinal Artery Syndrome Responsive to Intrathecal Baclofen
• Massive thrombosis in internal jugular phlebectasia in Menkes disease
• Menkes Disease: Clinical Presentation and Imaging Characteristics
• Neonatal Fc Receptor Inhibitor Therapeutics in Neuromuscular Disease
• Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
• Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease
• Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
• Refining quality measures for electrodiagnostic testing in suspected carpal tunnel syndrome to account for acceptable variations in practice: Expert review process
• Response of Fibroblasts from Menkes' and Wilson's Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase
• Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant