1. Inborn errors of metabolism
Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts ...
Healthline.com (OMS Preferred Provider)
2. Inborn Errors of Metabolism : Inborn Errors of Metabolism
Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the components of food ( carbohydrates , proteins , and The Guthrie test, given to newborns, helps doctors diagnose some ...
Healthline.com (OMS Preferred Provider)
3. Lipid Metabolism, Inborn Errors - Genetics Home Reference
3-hydroxyacyl-coenzyme A dehydrogenase deficiency; abetalipoproteinemia; carnitine-acylcarnitine translocase deficiency; carnitine palmitoyltransferase I deficiency; cerebrotendinous xanthomatosis; Chanarin-Dorfman syndrome; cholesteryl ester stor...
MedlinePlus (Offsite)
4. Liver transplantation for inborn errors of metabol... [Transplantation. 2005] - PubMed result
Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany. jochen_meyburg@med.uni-heidelberg.de
MedlinePlus (Offsite)
5. Amino Acid Metabolism, Inborn Errors - Genetics Home Reference
alkaptonuria; arginase deficiency; argininosuccinic aciduria; biotinidase deficiency; carbamoyl phosphate synthetase I deficiency; citrullinemia; glycine encephalopathy; Hermansky-Pudlak syndrome; holocarboxylase synthetase deficiency; homocystinu...
MedlinePlus (Offsite)
6. lt;!DOCTYPE HTML PUBLIC "-//W3C//DTD HTML 3.2 Final//EN"> <P> <HTML> <P> <HEAD> <P> <TITLE>A National...
Scenario : Ellen is a 48 year old professional woman who lives and works in Hartford, Connecticut. She has four adult children and two grandchildren. She also has two aging parents who live nearby and who, though they have been active all their li...
MedlinePlus (Offsite)
7. Inborn errors of metabolism - All Information
Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts ...
www.umm.edu
8. Inborn Errors of Metabolism
Biochemical pathways play an integral and essential part in the proper functioning of the human body. Defects in the production, breakdown or transport of a specific enzyme or protein can have deleterious consequences. Ultimately, disorders result...
www.utmb.edu
9. Inborn Errors of Metabolism : NIDDK
The Inborn Errors of Metabolism Program encompasses research in the diagnosis, pathophysiology and treatment of genetic metabolic diseases. Specific areas of support include:
www2.niddk.nih.gov.libproxy.lib.unc.edu
10. inborn errors of metabolism - NDI Foundation
The blockade of a biosynthetic pathway caused by a genetic enzyme deficiency or by inhibition of an enzyme by a drug or other substance.
www.ndif.org
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