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Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… (IEM) are a group of disorders that causes a block in a metabolic pathway leading to clinically significant … they also have the disorder. We recommend talking to your metabolic specialist and/or genetic counselor to determine … based (1) the position of the defective enzyme within the metabolic pathway and (2) whether or not there is any …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… cues, cells send and receive signals through biological pathways. The molecules that make up biological pathways … regulation of genes and in the transmission of signals. Metabolic pathways make possible the chemical reactions that occur in our bodies. An example of a metabolic pathway is the process by which cells break down …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… not able to provide a "first time" diagnosis or regular metabolic care. … Once you contact our team members, you will … studies such as a DEXA or MRI scan, energy expenditure or metabolic testing, and possibly a skin biopsy (if one has not …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated … and low muscle tone, kidney problems, poor vision, and metabolic instability causing them to become seriously ill, … to learn more about the genetic causes of these inherited metabolic disorders and the medical complications associated …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… Carlos Ferreira, M.D. , a staff clinician in the Metabolic Medicine Branch at the National Human Genome … disorders, we hope to better understand molecules and pathways that influence skeletal growth and metabolism in … bones … Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… analyses of the disease we focus on belong to inflammatory pathways, like Rohith's, that have been targeted by big … analyses turned up genes that belong to inflammatory pathways. … multi-focal osteomyelitis, CRMO, NIH Clinical … analyses turned up genes that belong to inflammatory pathways. … News Release …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… that focused on understanding genome function and gene pathways in development and disease. As head of the Genomics, … after nearly 30 years of discovering gene functions and pathways … Dr. Pavan looks back on his career at NHGRI, …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… Trimethylaminuria is a metabolic condition in which an individual is not able to … … About Trimethylaminuria … Trimethylaminuria is a metabolic condition in which an individual is not able to … Treating A Genetic Disease … Trimethylaminuria is a metabolic condition in which an individual is not able to …