30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
21 citations
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September 1990 in “Journal of The American Academy of Dermatology” Taking L-tryptophan supplements might cause a condition similar to scleroderma in some people, which can get better after stopping the supplement and starting corticosteroid therapy.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
144 citations
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November 2020 in “Frontiers in immunology” Targeting the IL-23/IL-17 pathway effectively treats several inflammatory skin diseases.
135 citations
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August 1994 in “Clinical Endocrinology” Most women with hirsutism or androgenic alopecia had polycystic ovaries, especially if they had irregular periods.
84 citations
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December 2018 in “Genetics in Medicine” Pegvaliase is recommended for treating adults with phenylketonuria.
82 citations
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April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
58 citations
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April 2012 in “Journal of the American Academy of Dermatology” Graft-versus-host disease is a complication where donor immune cells attack the recipient's body, often affecting the skin, liver, and gastrointestinal tract.
40 citations
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January 2010 in “Indian Journal of Dermatology, Venereology and Leprology” Certain diets can affect skin conditions, but more research is needed to understand these relationships fully.
38 citations
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January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
15 citations
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September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
13 citations
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January 2013 in “Molecular genetics and metabolism” Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
2 citations
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January 2017 in “Journal of Pigmentary Disorders” Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
2 citations
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October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
April 2021 in “Journal of Law Public Policies and Human Sciences” The described COVID-19 treatments seemed effective in influencing the disease's course, duration, and severity.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
2 citations
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July 2014 in “Irish Journal of Medical Science” The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
November 2023 in “Martor” People still turn to witchcraft for help with modern problems despite technological advances.
January 1977 in “Case Reports in Medicine” Steroid cell tumors in the ovary are rare, can produce testosterone causing symptoms, and are mainly treated with surgery.
26 citations
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September 2023 in “Journal of Allergy and Clinical Immunology” Regulatory T cells help prevent autoimmunity and have potential for treating autoimmune diseases.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
23 citations
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March 2014 in “International Journal of Molecular Sciences” Testosterone reduces knee flexibility by affecting relaxin receptors.
1 citations
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June 2025 in “Journal of Allergy and Clinical Immunology Global” A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
378 citations
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February 2020 in “Nature Reviews Endocrinology” 107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.