research Partial biotinidase deficiency: Clinical and biochemical features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
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research Synaptic processes and immune-related pathways implicated in Tourette syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research A Prospective Study of Dermoscopic and Ultrastructural Features of Vitiligo-Associated Leukotrichia
The study found that white hair in vitiligo has specific patterns and structures, which vary with the stage of the disease and may be similar to another hair condition.
research Leflunomide for the treatment of trichodysplasia spinulosa in a liver transplant recipient
Leflunomide successfully treated a rare skin condition in a liver transplant patient.
research FOX FORDYCE DISEASE IN A PREPUBERTAL GIRL
A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
research When one size does not fit all: Reconsidering PCOS etiology, diagnosis, clinical subgroups, and subgroup-specific treatments
Different types of PCOS need specific diagnosis methods and treatments.
research Incidence of trichostasis spinulosa at a single institution in Yemen
Trichostasis spinulosa is common but often underdiagnosed, mainly affecting women's faces.