research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
Search
for
Sort by
Research
20 / 20 results research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Epidemiologic Study of Gene Distribution in Romanian and Brazilian Patients with Non-Cicatricial Alopecia
The study suggests that analyzing DNA can help treat hair loss, but more research is needed.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Quantification of Biotin in Plasma Samples by Column Switching Liquid Chromatography – Tandem Mass Spectrometry
The document describes a way to measure biotin in blood to prevent wrong test results in hormone level testing.
research Hair Microscopy: An Easy Adjunct to Diagnosis of Systemic Diseases in Children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research Sp6 Downregulation of Follistatin Gene Expression in Ameloblasts
Sp6 promotes tooth development by reducing follistatin levels.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Inhibition of 3-Methylcrotonyl-CoA Carboxylase Explains the Increased Excretion of 3-Hydroxyisovaleric Acid in Valproate-Treated Patients
Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.
research Hair Restoration in Androgenetic Alopecia: Looking Beyond Minoxidil, Finasteride, and Hair Transplantation
Alternative treatments show promise for hair growth beyond traditional methods.
research Biotin - Facts and Hopes
Biotin is important for health, but taking extra usually doesn't help unless you're deficient.
research A Rare Case of Biotinidase Deficiency
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Genetic Fate-Mapping Reveals Surface Accumulation But Not Deep Organ Invasion of Pleural and Peritoneal Cavity Macrophages Following Injury
Cavity macrophages gather on organ surfaces but don't really invade or help repair the organs after injury.
research Recombinant Human Hepatitis B Vaccine Initiating Alopecia Areata: Testing the Hypothesis Using the C3H/HeJ Mouse Model
The hepatitis B vaccine did not cause hair loss in the tested mice.
research Characterization of CD4+ Stem Cells of the Skin and Their Role in Skin Homeostasis and Tumorigenesis
CD4+ skin cells may be precursors to basal cell carcinoma.
research Negative Impact of Testosterone Deficiency and 5α-Reductase Inhibitors Therapy on Metabolic and Sexual Function in Men
Low testosterone and 5α-reductase inhibitors can harm men's metabolic and sexual health; testosterone therapy may help, but discussing 5α-RIs' side effects is important.