ReviewJournal of multidisciplinary healthcare2016
Menkes disease: what a multidisciplinary approach can do.
Review in Journal of multidisciplinary healthcare, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Cuproptosis: Mechanisms, biological significance, and advances in disease treatment-A systematic review.CNS neuroscience & therapeutics · 2024Pooled it
- Menkes Disease with a Novel ATP7A Variant.Indian pediatrics · 2026Article
- Copper import via CTR1 supports the β3-Adrenergic thermogenic program.Molecular metabolism · 2026Article
- "A new era in Menkes disease management: the disease-modifying impact of Zycubo (copper histidinate)".Annals of medicine and surgery (2012) · 2026Article
- Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Copper Import via CTR1 Supports the β3-Adrenergic Thermogenic Program.bioRxiv : the preprint server for biology · 2026Article
- Beyond the Follicle: A Narrative Review on How Systemic Diseases and Drugs Affect Alopecia.Pharmaceutical medicine · 2026Review
- Copper Homeostasis and Cuproptosis in Neurological Disorders.Drug design, development and therapy · 2026Review
- Minerals and Human Health: From Deficiency to Toxicity.Nutrients · 2025Review
- Case Report: Child with Menkes syndrome complicated by bladder diverticula.Frontiers in pediatrics · 2025Article
- Two Cases of Menkes Disease With Similar Intracranial Arterial Tortuosity on Brain Magnetic Resonance Imaging.Cureus · 2024Article
- Insights Into the Role of Copper in Neurodegenerative Diseases and the Therapeutic Potential of Natural Compounds.Current neuropharmacology · 2024Review
- Copper in Gynecological Diseases.International journal of molecular sciences · 2023Review
- Abnormalities in Copper Status Associated with an Elevated Risk of Parkinson's Phenotype Development.Antioxidants (Basel, Switzerland) · 2023Review
- Ethics in pre-ART genetics: a missed X-linked Menkes disease case.Journal of assisted reproduction and genetics · 2023Article
- Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.Journal of clinical medicine · 2023Article
- Copper homeostasis and cuproptosis in health and disease.Signal transduction and targeted therapy · 2022Review
- Copper-histidine therapy in an infant with novel splice-site variant in theBMJ case reports · 2022Review
- Almost misdiagnosed Menkes disease: A case report.Heliyon · 2022Article
- Zebrafish as a Model to Study Vascular Elastic Fibers and Associated Pathologies.International journal of molecular sciences · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disorders of copper homeostasis are currently recognized across the life span. Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, developmental regression, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease"). In this review, we trace the historical background and describe the biochemistry and physiology of copper metabolism and transport, inheritance patterns, molecular genetics, and genotype-phenotype correlations based on current understanding of the disorder. It is clear from the clinical presentations and variants that disorders of copper homeostasis include phenotypes ranging from mild occipital horn syndrome to intermediate and severe forms of classical Menkes disease. The symptoms involve multiple organ systems such as brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. A multisystem disorder needs a multidisciplinary approach to care, as treatment interventions permit longer survival for some individuals. Animal models have been developed to help screen treatment options and provide a better understanding of these disorders in the laboratory. Finally, we propose a multidisciplinary approach to promote continued research (both basic and clinical) to improve survival, quality of life, and care for these conditions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.