Isobutyryl-CoA dehydrogenase

In this chapter, we will show you how to locate peer-reviewed references and studies on isobutyryl-CoA dehydrogenase deficiency. For those interested in basic information about isobutyryl-CoA dehydrogenase deficiency, we begin with a condition summary published by the National Library of Medicine. [Pg.3]

Genetics Home Reference (GHR) is the National Library of Medicine s Web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions. Here you can find a condition summary on isobutyryl-CoA dehydrogenase deficiency that describes the major features of the condition, provides information about the condition s genetic basis, and explains its pattern of inheritance. In addition, a summary of the gene or chromosome related to isobutyryl-CoA dehydrogenase deficiency is provided.2... [Pg.3]

The Genetics Home Reference has recently published the following summary for isobutyryl-CoA dehydrogenase deficiency ... [Pg.3]

What Genes Are Related to Isobutyryl-CoA Dehydrogenase Deficiency ... [Pg.4]

Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab. 2002 Sep-Oct 77(l-2) 68-79. PubMed citation... [Pg.6]

Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L. Isolated isobutyryl-CoA dehydrogenase deficiency an unrecognized defect in human valine metabohsm. Mol Genet Metab. 1998 Dec 65(4) 264-71. PubMed citation... [Pg.6]

Sass JO, Sander S, Zschocke J. Isobutyryl-CoA dehydrogenase deficiency isobutyrylglydnuria and ACAD8 gene mutations in two infants. J Inherit Metab Dis. 2004 27(6) 741-5. PubMed citation... [Pg.6]

A summary of the gene related to isobutyryl-CoA dehydrogenase deficiency is provided below ... [Pg.6]

Isobutyryl-CoA dehydrogenase deficiency isobutyrylglycinuria and ACAD8 gene mutations in two infants. [Pg.8]

Isolated isobutyryl-CoA dehydrogenase deficiency an unrecognized defect in human valine metabolism. [Pg.9]

HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.14 These documents include clinical practice guidelines, quick-reference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ s Put Prevention Into Practice.15 Simply search by isobutyryl-CoA dehydrogenase deficiency (or synonyms) at the following Web site http //text.nlm.nih.gov. [Pg.53]

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