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    Glossary Menkes Disease

    genetic disorder causing copper deficiency, leading to kinky hair

    Menkes Disease, also known as Menkes Kinky Hair Syndrome, is a rare genetic disorder that affects copper levels in the body, leading to severe developmental issues. It is characterized by sparse, kinky hair, growth failure, and deterioration of the nervous system. The disease is caused by mutations in the ATP7A gene, which is responsible for regulating copper transport. Early diagnosis and treatment with copper injections can improve outcomes, but the prognosis is generally poor.

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    1. Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children Applied Microscopy · 2021 · 3 citations
    2. Evaluation of hair structural abnormalities in children with different neurological diseases The Turkish Journal of Pediatrics · 2022
    3. HAIR AND SYSTEMATIC DISEASE Dermatologic Clinics · 2001 · 58 citations
    4. Hirsutism or Hyperandrogenemia, Which is More Noteworthy for Adolescent Girls with Irregular Menses? A Case–Control Study Based on an Epidemiological Survey Women s Health Reports · 2024
    5. Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations Journal of child neurology · 2007 · 15 citations
    6. Diagnosis, Manifestations, Laboratory Investigations, and Prognosis in Pediatric and Adult Cushing’s Disease in a Large Center in China Frontiers in endocrinology · 2021 · 4 citations
    7. AN AYURVEDIC MANAGEMENT OF VANDHYATVA ASSOCIATED WITH POLYCYSTIC OVARIAN DISEASE: A CASE REPORT The Healer · 2023 · 1 citations
    8. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    9. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    10. Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels! 2018 · 2 citations
    11. Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth Pediatrics in Review · 2024
    12. Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders Annals of Nutrition and Metabolism · 1977 · 18 citations
    13. Urban‐rural differences in the prevalence of female pattern hair loss among secondary school girls: A cross‐sectional study Journal of Cosmetic Dermatology · 2021 · 1 citations
    14. A CASE REPORT - AYURVEDA MANAGEMENT OF POLY CYSTIC OVARIAN DISEASE (PCOD) International Journal of Biology Pharmacy and Allied Sciences · 2025
    15. Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases Developmental Medicine & Child Neurology · 1982 · 33 citations
    16. Cutaneous manifestations of metabolic diseases: uncommon presentations Clinics in Dermatology · 2005 · 20 citations
    17. Ethnobotanical Study of Potentially Toxic Plants of Fez-Meknes Region, Eastern Middle Atlas, Morocco Tropical Journal of Natural Product Research · 2024
    18. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    19. Zebrafish Model of Hereditary Pigmentary Disorders International Journal of Dermatology and Venereology · 2019 · 1 citations
    20. Polycystic Ovary Syndrome: Diagnosis and Treatment The American Journal of Medicine · 2007 · 73 citations
    21. Polycystic Ovary Syndrome: Pathophysiology, Presentation and Treatment a Mini-Review Article Serbian Journal of Experimental and Clinical Research · 2021
    22. Polycystic Ovary Syndrome Kosin Medical Journal · 2015
    23. AN UPDATE OF HAIR SHAFT DISORDERS Dermatologic clinics · 1996 · 12 citations
    24. Hirsutism and baldness 1997
    25. Cell Surface B2m-Free Human Leukocyte Antigen (HLA) Monomers and Dimers: Are They Neo-HLA Class and Proto-HLA? Biomolecules · 2023 · 3 citations
    26. Alopecia and Thyroid Disease Springer eBooks · 2008
    27. Assessment of Cardiovascular Risk and Prevention of Cardiovascular Disease in Women with the Polycystic Ovary Syndrome: A Consensus Statement by the Androgen Excess and Polycystic Ovary Syndrome (AE-PCOS) Society The Journal of Clinical Endocrinology & Metabolism · 2010 · 815 citations
    28. THE DISEASE SPECTRUM, EPIDEMIOLOGY, AND ETIOLOGY OF TOXIC-SHOCK SYNDROME Annual Review of Microbiology · 1984 · 66 citations
    29. Regulatory T cells in inflammatory skin disease: from mice to humans International immunology · 2019 · 43 citations
    30. DERMATOLOGIC DISEASES AND PROBLEMS OF WOMEN THROUGHOUT THE LIFE CYCLE International Journal of Dermatology · 1995 · 18 citations