research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
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research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
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 オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Congenital adrenal hyperplasia
The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
research Hepatitis Lupus in Systemic Lupus Erythematosus in Male Patients
Lupus hepatitis can affect male SLE patients and is treatable with specific medications.
research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1
Two new gene clusters important for hair formation were found on human chromosome 11.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Electron microscopic and autoradiographic study of S35-L-cystine incorporation in mouse hair follicles
Mice hair follicles take in the amino acid cystine.
research Dental considerations in acrodermatitis enteropathica: A report of two cases
Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
research Effect of high-fructose diet on the renal cortex of adult male albino rats
High-fructose diets can cause irreversible kidney damage.
research 신선육자환 에탄올 추출물의 항산화 활성
Sinseon-yukza-hwan shows strong antioxidant potential for hair and scalp cosmetics.
research SALT II: A new take on the Severity of Alopecia Tool (SALT) for determining percentage scalp hair loss
The updated SALT II tool offers a more precise way to measure scalp hair loss.
research Minoxidil Sulfotransferase Enzyme (SULT1A1) genetic variants predicts response to oral minoxidil treatment for female pattern hair loss
Genetic variants affect minoxidil hair loss treatment success.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Case Report: High Dose Vitamin D & Anti-inflammatory Diet (Systemic Lupus Erythematosus & Alopecia Areata)
High-dose vitamin D and an anti-inflammatory diet may help improve symptoms in autoimmune conditions like SLE and AA.
research Ulerythema Ophryogenes in a Saudi Male: A Case Report
A rare skin disorder affecting the face was found in a 28-year-old Saudi man.
research Drug Information Analysis Service
Cromolyn sodium's effectiveness for treating asthma in children under 2 is unclear, possibly more beneficial for older children, and further research is needed.
research Systemic Lupus Erythematous and Vitamin D Deficiency in an Adult Sudanese Patient with Sickle Cell Trait
A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
research Contribution of lipid Peroxidation to Social Behaviors in individuals with autism spectrum disorders
Lipid peroxidation may worsen social behavior issues in autism.
research Biologics and Small Molecule Targeted Therapies for Pediatric Alopecia Areata, Psoriasis, Atopic Dermatitis, and Hidradenitis Suppurativa in the US: A Narrative Review
Biologics and targeted therapies could improve treatment for children with certain chronic skin conditions.
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.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Self-Amplifying RNA Approach for Protein Replacement Therapy
Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.