Preliminary CommunicationsMENKES' KINKY-HAIR SYNDROME
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Cited by (218)
Early clinical signs and treatment of Menkes disease
2022, Molecular Genetics and Metabolism ReportsCitation Excerpt :Menkes disease (MD, MNK; MIN# 309400) is an X-linked recessive disorder of copper metabolism characterized by progressive neurodegeneration, connective tissue disorders, and abnormal hair growth [1–3].
Copper nutrition and biochemistry and human (patho)physiology
2021, Advances in Food and Nutrition ResearchCopper
2020, Present Knowledge in Nutrition: Basic Nutrition and MetabolismSynthesis and characterization of the first cyrhetrenyl-appended calix[4]arene macrocycle and its application as an electrochemical sensor for the determination of Cu(II) in bivalve mollusks using square wave anodic stripping voltammetry
2019, Sensors and Actuators, B: ChemicalCitation Excerpt :Despite copper being an essential micronutrient required for numerous cellular functions [4], some studies indicate that variation in copper levels is related to neurodegenerative diseases such as Alzheimer's disease [5]. On the other hand, a copper deficit in the human body results in diseases such as Menkes syndrome [6], while high concentrations of this metal lead to liver disorders such as Wilson's disease [7]. Due to the importance of copper in food and particularly in bivalve mollusks, it is necessary to have new analytical methodologies for its determination, such as spectroscopic techniques [8–10].
Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model
2018, Molecular Therapy Methods and Clinical DevelopmentCitation Excerpt :ATP7A normally traffics to the plasma membrane of polarized epithelial cells to mediate copper transport across membrane bilayers, including the gastrointestinal mucosa-blood, blood-brain, and blood-cerebrospinal fluid barriers.9 There have been numerous careful clinical efforts to modify the natural history of this difficult illness by various copper treatment regimens.2,13–16 Early (≤28 days postnatal) subcutaneous injections of copper histidinate (sc CuHis) can bypass the defect in gastrointestinal copper absorption, normalize blood copper levels, and reduce under-age-three mortality compared to untreated subjects.12,17
Copper, gallium and zirconium positron emission tomography imaging agents: The importance of metal ion speciation
2017, Coordination Chemistry Reviews