Sentences with phrase «characterized by genetic disorders»

Genodermatoses are characterized by genetic disorders of the skin affecting mainly either keratinocytes or melanocytes the two majors cell types of the epidermis.

Not exact matches

The classic success story is neonatal screening for phenylketonuria [a genetic disorder characterized by the inability to utilize the amino acid phenylalanine], which has saved thousands of children's brains.

The HALT - PKD trial enrolled volunteers to test whether a combination of commonly used FDA - approved drugs, lisinopril and telmisartan, could shrink kidney cysts and therefore slow progression of ADPKD, a genetic disorder characterized by growth of fluid - filled cysts in the kidneys.

Second Sight's retinal prosthesis is currently approved only for patients with inherited retinal disorders (IRD), formerly known as retinitis pigmentosa, a group of genetic diseases characterized by a loss of photoreceptors.

The most severe form of SMA is Type 1, a lethal genetic disorder characterized by motor neuron loss and associated muscle deterioration, which results in mortality or the need for permanent ventilation support before the age of two for greater than 90 percent of patients.

In the McKusick - Nathans Epigenetics and Chromatin Clinic, she studies how a mutation in the EZH2 gene leads to Weaver syndrome, a genetic disorder characterized by rapid growth and intellectual disability.

She examines how a mutation in the EZH2, a component of the epigenetic machinery, leads to Weaver syndrome, a genetic disorder characterized by excessive skeletal and organ growth, as well as intellectual disability.

This study highlights the important point that studies of disorders characterized by considerable heterogeneity, such as ASD, may need to be particularly mindful of potential genetic differences within their samples.

Mucolipidosis IV is a rare genetic disorder characterized by developmental delay and gradual vision loss in childhood.

ARSACS is a rare genetic disorder characterized by loss of sensation and muscle control, as well as muscle stiffness that worsens over time.

Beta thalassemia is a genetic disorder characterized by anemia and fatigue as well as bone deformities and organ problems.

MCAD deficiency is a rare genetic disorder characterized by episodes of very low blood sugar while fasting or under stress.

Bloom syndrome is a rare genetic disorder characterized by impaired growth and increased risk of infections and cancer.

Cystic fibrosis is a rare genetic disorder characterized by impaired lung and digestive function.

Sickle cell anemia is a genetic disorder characterized by anemia, episodes of pain, and frequent infections.

In this article, she describes Claire Johnson, a patient with a rare case of lipodystrophy, a genetic disorder characterized by the lack of fat.

Ichthyosis is a inherited genetic disorder that occurs both in humans and in animals characterized by diffuse keratinization of the surface layer of the skin.

Hip dysplasia is a disorder that is genetic in nature and is characterized by hip joints that are poorly formed or developed.