May 2025 in “CPT Pharmacometrics & Systems Pharmacology” A 50 mg non-loading dose of ritlecitinib is safe for adults and adolescents.
February 2020 in “Scholars academic journal of pharmacy” The weight loss drug Orlistat can cause liver damage and should be used with caution, especially in those with liver or kidney issues.
Defective protein folding due to a mutation is key in ANE syndrome.
12 citations
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January 2011 in “Journal of the Saudi Society of Dermatology & Dermatologic Surgery” Thallium poisoning from contaminated cake caused severe health issues in Baghdad, highlighting the need to ban thallium as a rodenticide.
3 citations
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March 2012 in “Actas Dermo-Sifiliográficas” An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
19 citations
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January 2001 in “Internal Medicine” Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.
11 citations
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April 1991 in “Journal of Veterinary Diagnostic Investigation” Shorthorn calves in Missouri experienced photosensitization, causing skin issues and liver damage, but they eventually recovered.
1 citations
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October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
21 citations
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August 1987 in “Archives of Dermatology” High-dose methotrexate can cause severe skin and nail issues.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
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.
April 2023 in “Tikrit Journal of Pharmaceutical Sciences” Deferasirox effectively reduces iron overload in ß-thalassemia patients but may cause some manageable side effects.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
Blocking autophagy worsens lipid buildup and dysfunction in brain cells after injury.
33 citations
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January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
13 citations
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June 2008 in “International Journal of Dermatology” Sorafenib can cause a unique skin reaction.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
June 2022 in “International journal of research and review” The article concludes that early diagnosis and lifestyle changes can prevent complications from high uric acid levels.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
52 citations
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March 1979 in “Toxicology and Applied Pharmacology” Minoxidil can cause heart muscle damage in dogs.
January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
New pyridine compounds effectively inhibit GSK3, a diabetes treatment target.
4-(Ethoxycarbophenyl) retinamide is much less toxic than other retinoids.
February 2023 in “Ankara Üniversitesi Veteriner Fakültesi dergisi” Two calves died from ethylene glycol poisoning, a condition more common in pets.
June 2025 in “Frontiers in Immunology” Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.