research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
Search
for
Sort by
Research
360-390 / 1000+ resultsresearch Physiological Insights from the Vitamin D Receptor Knockout Mouse
research Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant
Zinc supplements effectively treat inherited zinc deficiency in infants.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research Zinc responsive dermatopathy in goats: two field cases.
High calcium in their diet caused zinc deficiency in the goats.
research Ocular Manifestations in Avitaminosis
Vitamin A deficiency can cause eye problems and other health issues.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research The Molecular Biology of the Vitamin D Receptor
The vitamin D receptor can affect gene activity even without its usual hormone in hair and skin.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research Serum 25-hydroxy vitamin D3 level in Egyptian patients with alopecia areata
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research Femoral Neck Stress Fracture Complicated by Deep Venous Thrombosis and Complex Regional Pain Syndrome: A Case Report
A multidisciplinary approach is crucial for treating stress fractures and related complications in athletes.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Alopecia Areata and Vitamin D3 Deficiency: The Potential of Calcipotriol as a Treatment
Calcipotriol's effectiveness for treating alopecia areata is unclear and needs more research.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Scorbut atypique associé à une anorexie mentale
A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
research Suppression of Vitamin D Receptor and Induction of Retinoid X Receptor α Expression During Squamous Differentiation of Cultured Keratinocytes
As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Iron-Deficiency Anemia During Childhood
Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.
research Vitamin D and microRNAs
Vitamin D affects many body functions and its interaction with microRNAs could help treat related diseases.
research Assessment of Vitamin D Level in Patients of Alopecia Areata
Low vitamin D levels are common in people with Alopecia Areata.