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Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring once in … individuals. … Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness. … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… Methylmalonic acidemia refers to a group of inherited disorders in which the body is unable to process certain … … Methylmalonic acidemia (MMA) refers to a group of inherited disorders in which the body is unable to process …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical complications … (MRI) and magnetic resonance spectroscopy (MRS) of the brain. This is non-invasive but some patients may require …
Educational Resources
An inherited trait is one that is genetically determined.
… Inherited … An inherited trait is one that is genetically determined. … Inherited Trait, Mendelian Genetics, Genes, Family Health History, Genealogy … Inherited, as related to genetics, refers to a trait or …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism … Autism is a developmental brain disorder characterized by impaired social interactions, … problems, and repetitive behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, … Developmental Disorder … Autism is a condition related to brain development that can cause significant social, …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's … resulting in anemia. … Thalassemia is actually a group of inherited diseases of the blood that affect a person's … resulting in anemia. … Thalassemia, Inherited Blood Disorders, Hemoglobin, Anemia, Alpha Thalassemia, Beta …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… , NHGRI researchers examined people with ADHD to map brain connections, called white matter tracts, tied to the … of nerve fibers in and transfers information across the brain. With the help of magnetic resonance imaging (MRI) and … advancement. What's more, ADHD is a leading risk for mood disorders, substance abuse and even car accidents. With this …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) … the nervous system such as eye problems, seizures and brain damage. In Type 2 Gaucher disease, severe medical … increased risk of developing Parkinson disease and related disorders. … The diagnosis of Gaucher disease is based on …