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Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.

The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.

Patients with this syndrome can have different responses and worsening resistance to treatment over time.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

Hair amino acid levels can indicate metabolic disorders.

Higher enzyme levels found in women with hair loss, suggesting hormone imbalance.

Vitamin C deficiency can persist in high-risk patients despite supplementation.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.

Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.

Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.

Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.

5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.

Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.

Folic acid helped a calf regrow hair lost due to deficiency.

Patients with alopecia areata have lower RBC folate levels, especially in severe cases.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

The toddler's health issues were caused by too much vitamin A from supplements.

Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.

5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.

Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.

The woman has scurvy and needs more vitamin C.

Riboflavin is essential for health and growth, and its deficiency causes serious health issues.