Search

everythinglearnresearchcommunity

for

Search:↓

Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.

Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.

Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.

The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.

Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

A new DSG4 gene mutation causes hair defects in a young girl.

Mutations in the HOXC13 gene cause hair and nail development issues.

Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.

Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.

The infant with a urea cycle disorder improved with treatment and a liver transplant.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.

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

The ZIP13 variant is linked to abnormal hair quality.

Cinacalcet may help treat hereditary vitamin D resistant rickets safely.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.