76 citations
,
May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
June 2023 in “British Journal of Dermatology” A person with Werner syndrome was initially thought to just have female pattern hair loss.
August 2018 in “Journal of The American Academy of Dermatology” Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
4 citations
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November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
35 citations
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February 2012 in “The New England Journal of Medicine” Early diagnosis and treatment of TPP can prevent complications.
3 citations
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September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
14 citations
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November 1963 in “The journal of investigative dermatology/Journal of investigative dermatology” Pathologic tissues have more soluble proteins than normal tissues.
6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
1 citations
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January 2015 in “Acta Dermato Venereologica” Autoimmune myopathy may be linked to hair loss and skin depigmentation.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
7 citations
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April 2019 in “Animal biotechnology” The POMP gene is active in various goat tissues and affects hair growth, with certain treatments influencing its expression.
February 2012 in “Hospital Pharmacy” PRP may help with hair loss, but more research is needed.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
Hair proteins in preschool children and their mothers could indicate developmental changes and health status.
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
2 citations
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July 2022 in “Pediatric dermatology” A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
November 2024 in “Rheumatology Advances in Practice” Monitor for early signs of azathioprine toxicity and check blood counts regularly.
January 2016 in “International Journal of Dermatology and Venereology” DNA methylation changes are linked to skin diseases with inflammation.
2 citations
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January 2015 in “Hair transplant forum international” Using human recombinant hyaluronidase in donor strip harvesting may improve the procedure.
March 2023 in “Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb” A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
19 citations
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September 2021 in “British journal of dermatology/British journal of dermatology, Supplement” Activating PPAR-γ signalling can protect hair follicle stem cells from damage caused by chemotherapy.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.