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Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

The MTR gene affects wool quality and production in Chinese Merino sheep.

Introducing the rat OTC gene partially corrected OTC deficiency in mice.

Methionine is essential for hair maintenance in C57BL/6 mice.

Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.

Methionine supplementation in low-protein diets improves growth, fur quality, and gut health in blue foxes.

Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.

Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.

Pegvaliase is recommended for treating adults with phenylketonuria.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

A unique gene mutation was found in a family with monilethrix.

Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.

Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

Ethionine significantly inhibits wool growth in sheep but not hair growth in mice or rats.

The TRPV3 gene variant may cause the long-haired suri alpaca coat.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

Two new gene mutations cause a rare hair disorder.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.