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

Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.

MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.

Mice with CBS deficiency are healthier on a low-methionine diet.

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

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.

Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.

An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.

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

Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.

A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.

A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.

Vitamin B12 deficiency can cause darkening of all nails.

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

Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.

The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.

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

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

A new mouse mutation causes skin and hair defects due to a gene change.

A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.