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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 …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
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 …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… the rate of progression of HD or correct or replace other metabolic defects contributing to the development and … discovered how the genetic mutation alters chemical pathways to cause the disease. By identifying these changes, …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
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… system development.5. These microbial genes encode myriad metabolic capabilities.6. The human microbiome … of specific microbes and/or specific microbial metabolic pathways are characteristic of disease patients vs …
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… • Provides early warning that affects neonatal care • Metabolic disease • Definitive diagnosis for fetus/newborn … heterogeneous condition • Renal salt wasting, hypokalemic metabolic alkalosis. Secondary hyperaldosteronism • 2 … Expression Microarrays Step III: Dysregulated Signaling Pathways E15.5 brain Ts1Cje, Ts65Dn, Dp16Mouse models of DS …
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… Work Groups now meeting in the areas of pharmacogenetics, metabolic disease genetics, cardiovascular genomics, and … Session, held in conjunction with the Society of Inherited Metabolic Disorders meeting, featured joint plenary sessions, … explored follow-up sequence variants in genes in metabolic pathways, new approaches to metabolic testing, and how to …
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… cases, 11,312 controls ~25 LOAD genes identified to date 3 pathways: protein processing, inflammation and lipids …