11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
June 2021 in “SWU eJournals System (Srinakharinwirot University)” Mixed coconut oil/solvent is suitable for cyproterone acetate injections, but more safety checks are needed.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
3 citations
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April 1977 in “PubMed” The treatment improved acne, seborrhoea, and hirsutism, with some side effects like spotting and nervousness.
86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
5 citations
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November 2012 in “Journal of Clinical Psychopharmacology” Valproic acid and isoniazid can interact, causing toxicity, so careful monitoring is needed.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
November 2022 in “Journal of the Endocrine Society” Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.
4 citations
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September 2021 in “Hormone and Metabolic Research” Different forms of the Vitamin D receptor can impact metabolic and hormone issues in Polycystic Ovary Syndrome.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
September 2019 in “Journal of Investigative Dermatology” PCE-DP brightens skin and promotes hair growth by enhancing cell growth and reducing melanin uptake.
22 citations
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June 2002 in “Journal of Medicinal Chemistry” Compounds 15, 20, and 25 are strong inhibitors of human steroid 5α-reductase type 2.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
19 citations
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August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
73 citations
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October 2001 in “Epilepsia” Children taking higher doses of valproic acid had lower biotinidase activity, which may lead to biotin deficiency, but biotin supplements could help.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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.
15 citations
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January 2014 in “Dermatology” Some patients treated with peginterferon and ribavirin for chronic hepatitis C had mild to moderate skin reactions, but treatment did not need to be stopped.
3 citations
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July 2018 in “Biomedicine & pharmacotherapy” Paeoniflorin protects brain cells by involving a specific protein and neurosteroids.
April 2019 in “Journal of the Endocrine Society” An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
July 1989 in “British Journal of Dermatology” Long-term use of canthaxanthin may cause reversible changes in the eye, including crystal deposits and altered vision responses.
October 2019 in “Turkderm” Patients with pernio have lower vitamin B12 and ferritin levels than healthy people.
4 citations
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September 1994 in “Xenobiotica” Finasteride metabolism varies by age, sex, and P450 inducers, with males processing it faster.
January 2008 in “Central South Pharmacy” A reliable method was developed to measure candesartan in human plasma.
8 citations
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January 2007 in “Hair transplant forum international” Vitamin B12 improves the health and growth of hair micrografts.
April 2011 in “Reactions Weekly” June 2009 in “Mayo Clinic Proceedings” A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
21 citations
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June 1991 in “Journal of Inherited Metabolic Disease” Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
44 citations
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June 2015 in “British Journal of Pharmacology” Betulinic acid can help treat hepatitis C by stopping virus replication.