12 citations
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February 2011 in “Equine veterinary education” A mare had severe symptoms and died from a large lymphoma.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
26 citations
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September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
24 citations
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February 1986 in “Cancer” A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
December 2024 in “JURNAL ANALIS LABORATORIUM MEDIK” Diabetic wounds heal slower than healthy wounds.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
44 citations
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January 2020 in “Obesity Surgery” Hair loss after bariatric surgery is often due to iron and protein deficiencies.
67 citations
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September 2017 in “Cell Reports” Caloric restriction improves skin and fur structure but can cause muscle loss and movement issues.
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.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
35 citations
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August 1978 in “Australian Veterinary Journal” Feeding steers only Leucaena leucocephala causes severe health issues and poor weight gain.
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June 2010 in “Dermatology Online Journal” Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
4 citations
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July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
March 2021 in “Bangladesh Journal of Child Health” Overweight and obese children in Bangladesh show signs of altered glucose metabolism, indicating a need for screening.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
211 citations
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May 2013 in “Journal of Nutrition Health & Aging” MK-0773 safely increased muscle mass but did not improve muscle strength or function in elderly women with sarcopenia.
July 2021 in “Zenodo (CERN European Organization for Nuclear Research)” Mealworm farming is a sustainable, low-cost way to produce high-quality protein-rich feed.
Defective protein folding due to a mutation is key in ANE syndrome.
28 citations
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November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
1 citations
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September 2018 in “Apollo (University of Cambridge)” Phosphate starvation reduces calcium signaling in plant roots.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
34 citations
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August 2005 in “Veterinary Dermatology” Goats may need lifelong zinc supplements due to hereditary zinc absorption issues.
January 2025 in “Indian Journal of Small Ruminants (The)” Timely diagnosis and treatment improved a goat's skin condition.
January 2022 in “Indian journal of paediatric dermatology” A baby had a rare case of widespread milia, which was treated and is being monitored.
73 citations
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May 1976 in “JAMA” Long-term parenteral nutrition without zinc can cause severe zinc deficiency.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
21 citations
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September 1966 in “Toxicology and Applied Pharmacology” Caffeine becomes more toxic in rats when food intake is reduced by over 50%.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.