research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
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300-330 / 1000+ resultsresearch Evaluation of Serum Homocysteine, High-Sensitivity CRP, and RBC Folate in Patients with Alopecia Areata
Patients with alopecia areata have lower RBC folate levels, especially in severe cases.
research 5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes
Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Adverse Effects of 5-Alpha-Reductase Inhibitors: a narrative review
5-Alpha-Reductase Inhibitors can cause negative side effects.
research A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency
Biotin supplements can effectively treat hair loss and skin issues in certain enzyme deficiencies.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Aromatase deficiency in a male patient - Case report and review of the literature.
A male with aromatase deficiency improved bone health with estradiol treatment.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts
research Hair Amino Acids: Normal Values and Results in Metabolic Errors
Hair amino acid levels can indicate metabolic disorders.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Risk of estrogen-driven malignancies in females on 5-alpha reductase inhibitors
research Persistent scurvy after vitamin C supplementation in a high-risk patient: a case report
Vitamin C deficiency can persist in high-risk patients despite supplementation.
research P5 Assembly of hair keratins in thansfected cultured cells
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 Further Observations on Riboflavin as a Food Factor in Economy of Food Utilization
Riboflavin is essential for health and growth, and its deficiency causes serious health issues.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Pure linoleate deficiency in the rat: influence on growth, accumulation of n-6 polyunsaturates, and [1-14C]linoleate oxidation
Linoleate deficiency in rats reduces growth and n-6 polyunsaturate accumulation, causing mild symptoms.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Folic acid therapy for alopecia in a Charolais calf
Folic acid helped a calf regrow hair lost due to deficiency.
research Carence en fer et troubles digestifs
Iron deficiency can cause fatigue, exercise intolerance, and cognitive issues, even without anemia.
research Red Blood Cells Folate Level in Patients with Alopecia Areata
Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
research Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
A special diet can fix hair problems in argininosuccinase deficiency.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Prefrontal 5α-reductase 2 mediates male-specific acute stress response
5α-reductase 2 is crucial for stress response in male rats.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research Risk of rhabdomyolysis from 5-α reductase inhibitors
Starting 5-alpha reductase inhibitors does not significantly increase the risk of rhabdomyolysis in older men, but is linked to a higher risk of muscle conditions.
research Tratamiento de la Depresión durante el embarazo: perspectivas clínicas
SRD5A2 enzyme expression varies in benign prostates and can be influenced by inflammation, affecting treatment options.