research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
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990-1000 / 1000+ results research Osseous Metaplasia and Mature Bone Formation With Extramedullary Hematopoiesis in Trichilemmal Cyst
Ossification in trichilemmal cysts is more common than previously believed.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research SAT-LB82 Myxedema as Presenting Feature of Profound Primary Hypothyroidism in a Toddler
A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
research Porphyria Cutanea Tarda – a Case Report
Stopping oral contraceptives improved symptoms of porphyria cutanea tarda in a young woman.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research The Friar Tuck sign in trichotillomania
An 8-year-old boy with hair-pulling disorder had a bald patch that was confirmed not to be a fungal infection and was treated with therapy.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research Bone infarcts in a woman with systemic lupus erythematosus and antiphospholipid antibody syndrome
A woman with lupus and antiphospholipid syndrome had bone damage, showing the need for careful treatment.