research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
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990-1000 / 1000+ resultsresearch Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Lupus and Pulmonary Nodules Consistent With Bronchiolitis Obliterans Organizing Pneumonia Induced by Carbamazepine
Carbamazepine may cause lung problems and lupus-like symptoms, which can improve after stopping the drug.
research 057 Single cell RNA and TCR sequencing reveals hyperexpansion of T cell clones and novel regulatory mechanisms of CD8+ T cells in murine alopcecia areata skin and draining lymph nodes
CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
research Renbök Phenomenon and Contact Sensitization in a Patient With Alopecia Universalis
Psoriasis or contact dermatitis can override alopecia areata, allowing hair growth.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Pathologic Quiz Case: An 84-Year-Old Woman With a Skin Cyst Containing Ziehl-Neelsen–Positive Structures
Basal cell carcinoma may originate from vellus hair cysts.
research An Updated Nomenclature for Keratin-Associated Proteins (KAPs)
The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.