1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
14 citations
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June 1952 in “The BMJ” Phenobarbitone can cause severe and sometimes fatal skin reactions.
22 citations
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January 1992 in “PubMed” Higher CSF 5-HIAA levels may predict better response to serotonin re-uptake inhibitors in trichotillomania.
3 citations
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August 2005 in “Journal of Pediatric Gastroenterology and Nutrition” The toddler's health issues were caused by too much vitamin A from supplements.
117 citations
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May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
23 citations
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June 1950 in “American journal of diseases of children” Aminopterin was somewhat effective in acute lymphoblastic leukemia in children but did not increase survival time.
7 citations
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June 2019 in “Australasian Journal of Dermatology” AGA in children needs careful diagnosis due to low androgen levels and possible other causes.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
14 citations
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February 2007 in “Irish Veterinary Journal” A dog with a pituitary tumor developed tertiary hypothyroidism, improved with treatment, but was later euthanized due to neurological issues.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
January 2026 in “Journal of the Egyptian Womenʼs Dermatologic Society” High levels of HSP70 and IL-15 are linked to more severe alopecia areata.
6 citations
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January 1988 in “Japanese Journal of Medicine” Hair glycation levels can indicate long-term blood sugar control.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
September 2019 in “Journal of Investigative Dermatology” People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
4 citations
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August 2018 in “Journal of cellular biochemistry” Acid inside cells speeds up aging and turns on aging signs in mice.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
5 citations
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June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
64 citations
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May 1981 in “Clinical and Experimental Dermatology” A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
November 2018 in “Springer eBooks” Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.
June 2024 in “Journal of Psychiatry Spectrum” Iron deficiency can cause psychiatric symptoms that improve with proper treatment.
August 2022 in “Clinical and Experimental Dermatology” Amino acid supplements may not be necessary for all women with chronic hair loss.
3 citations
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July 2019 in “Experimental Dermatology” Hair loss patients may have different polyamine levels in various scalp areas.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.