January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplementation effectively treats acrodermatitis enteropathica symptoms.
July 1993 in “学術講演梗概集. A, 材料施工,防火,海洋,情報システム技術” Evaluate prolactin levels with androgen and thyroid tests to rule out endocrine issues in patients with SAHA syndrome symptoms.
31 citations
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December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Suppressing very long chain fatty acids is linked to skin cancer.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
September 1993 in “Archives of Disease in Childhood” Early diagnosis and treatment with biotin are crucial for preventing severe outcomes in certain conditions.
35 citations
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March 2012 in “Journal of dermatological science” The document concludes that advanced methods show the presence of P. acnes in acne lesions but do not prove it causes acne.
6 citations
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January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplements effectively treat acrodermatitis enteropathica.
1 citations
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July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
14 citations
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January 1990 in “Fertility and Sterility” Some patients with high prolactin levels don't show symptoms because they have a form of the hormone that's less active.
April 2020 in “Journal of evolution of medical and dental sciences” A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
July 2022 in “Research Square (Research Square)” Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
109 citations
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April 1997 in “Journal of Lipid Research” Linoleate deficiency in rats reduces growth and n-6 polyunsaturate accumulation, causing mild symptoms.
6 citations
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January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
5 citations
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June 2015 in “British Journal of Dermatology” A certain medication improved severe itching in a boy with liver and bowel disease by reducing histamine levels, suggesting a new treatment target.
1 citations
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
40 citations
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July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
170 citations
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May 1979 in “The journal of pediatrics/The Journal of pediatrics” Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
36 citations
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October 2008 in “European journal of paediatric neurology” Valproic acid treatment may cause temporary hair loss due to reduced zinc and biotinidase levels, which tend to normalize after 6 months.
December 2025 in “Rapid Communications in Mass Spectrometry” Pepsin digestion improves accuracy in analyzing proteins in human hair.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
September 2023 in “Journal of the American Academy of Dermatology” Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
29 citations
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January 2020 in “BioMed Research International” Sinapic acid may help fight obesity and promote hair growth.
September 2009 in “European journal of paediatric neurology” Biotin supplements did not significantly reduce hair loss in rats on valproic acid.
August 2023 in “Fermentation” Scientists can use engineered microbes to make L-aspartate and related chemicals, but there's still room to improve their efficiency.
May 2024 in “European Journal of Immunology” Vitamin B5 and coenzyme A may help regulate the immune system and could improve treatments for chronic diseases and cancer.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
January 2025 in “Dermatology Review” Acitretin may cause salivary gland inflammation.