Menkes Library
20 curated scientific publications, guidelines and resources on Menkes disease — freely accessible.
Reference Resources
Diagnosis & Genetics
Menkes disease
Tümer et al. · European Journal of Human Genetics
Menkes disease: recent advances and new aspects
Tümer et al. · Journal of Medical Genetics
Diagnosis of Copper Transport Disorders
Moller et al. · Current Protocols
A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease
Treatment & Therapy
Copper-histidine therapy for Menkes disease
Sarkar et al. · Journal of Pediatrics
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients
Copper Histidinate Treatment for Menkes Disease (Kinky Hair Syndrome)
Kaler et al. · AAP Poster
Síntesis y uso de histidinato de cobre en niños con enfermedad de Menkes en México
Flores et al. · Gaceta Médica de México
Chelating principles in Menkes and Wilson diseases
Horn et al.
Elesclomol & Novel Therapies
Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice
Guthrie et al. · Science, 368(6491):620
Repurposing elesclomol, an investigational drug for the treatment of copper metabolism disorders
RE: Treatment of copper transport disorders
Science — Comment
RE: Sending copper where it is needed
Science — Comment
