3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
7 citations
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June 1976 in “JAMA” Most women with ankylosing spondylitis tested positive for HLA-B27, suggesting it's useful for diagnosis.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
April 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
8 citations
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August 2016 in “Annales de Dermatologie et de Vénéréologie” A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
April 2023 in “World Journal of Advanced Research and Reviews” Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
11 citations
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January 2009 in “World Journal of Gastroenterology” A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
June 2025 in “Neurology India” Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
23 citations
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August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
January 2026 in “Revista Eletrônica Acervo Saúde” Long COVID can cause anemia and iron issues, leading to fatigue and slow recovery, especially in men and severe cases.
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.
4 citations
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August 2005 in “Clinical Infectious Diseases” The man's symptoms improved after treating his scurvy with high-dose vitamin C.
Amotosalen-treated donor T-cells can prevent late CMV infection after bone marrow transplants.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
49 citations
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July 1994 in “British journal of dermatology/British journal of dermatology, Supplement” Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
8 citations
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August 2009 in “Pediatric transplantation” A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
November 2023 in “Skin Appendage Disorders” A rare scalp condition can occur due to leukemia affecting the skin.
5 citations
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July 2018 in “Pediatrics” A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
1 citations
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April 2018 in “Infectious diseases in clinical practice” Travel history and tick-borne diseases should be considered in unexplained fevers for timely diagnosis and treatment.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
January 2019 in “Lung India” A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
17 citations
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April 2023 in “Cell Biology International” RDW is a useful, cost-effective tool for diagnosing and monitoring various diseases.
9 citations
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March 2019 in “Anthropology and Medicine” PCOS in India is linked to broader sociocultural and environmental changes, not just diet and exercise.
8 citations
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March 1994 in “The American Journal of Cosmetic Surgery” The Total Excision Techniques improve hair transplant results by increasing grafts by at least 50% and reducing scarring.
3 citations
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July 1997 in “Current problems in dermatology” Hair restoration surgery has evolved over time, with a focus on natural-looking results and managing patient expectations, while also considering potential complications and the lifelong progression of male pattern baldness.
2 citations
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October 2010 in “Springer eBooks” Using cheek skin and cartilage grafts for nose reconstruction after skin cancer surgery can maintain shape and function but may require multiple surgeries and hair removal in men.