189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
May 2015 in “Journal of The American Academy of Dermatology” January 2026 in “Skin Research and Technology”
19 citations
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July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
26 citations
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June 2005 in “Journal of The American Academy of Dermatology” Some patients receiving pegylated interferon alfa injections developed skin necrosis, requiring treatment adjustments or discontinuation.
14 citations
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October 2001 in “British Journal of Ophthalmology” Corneal issues in pemphigus vulgaris may require surgery if medication is not followed.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
6 citations
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November 1980 in “Clinical Endocrinology” Measuring plasma testosterone glucosiduronate is a reliable way to detect high male hormone levels in women.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
6 citations
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October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
September 1993 in “Archives of Disease in Childhood” Early diagnosis and treatment with biotin are crucial for preventing severe outcomes in certain conditions.
Vitamin D deficiency and altered lipid metabolism may contribute to female hair loss.
5 citations
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September 2023 in “Clinical Endocrinology” Polymenorrhoea should be included in PCOS diagnostic criteria due to similar metabolic issues.
1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
10 citations
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November 2023 in “European Journal of Lipid Science and Technology” Walnut extract may help lower cholesterol and inflammation.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
January 2019 in “Springer eBooks” Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
1 citations
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August 1978 in “Dicp-The annals of pharmacotherapy” A liquid protein diet caused hair loss in a young woman.
December 2020 in “Benha Journal of Applied Sciences” People with severe acne tend to have higher levels of betatrophin.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
13 citations
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March 2019 in “Physiological Research” Overweight women with PCOS have higher levels of certain hormones that could indicate a higher risk of heart and metabolic problems.
13 citations
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April 2015 in “Human Reproduction” Obese Hispanic women with PCOS are at higher risk for metabolic problems than non-Hispanic white women.
15 citations
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November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
11 citations
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February 2011 in “International Journal of Molecular Sciences” Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
4 citations
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March 2021 in “Parasitology Research” Besnoitiosis, a parasitic disease, has been found in donkeys in Italy and may be more common in Europe than previously thought.