Short-chain acyl-coenzyme A dehydrogenase deficiency
نویسندگان
چکیده
منابع مشابه
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
Two distinct mutant alleles of the precursor (p) short chain acyl-CoA dehydrogenase (SCAD) gene were identified in a SCAD-deficient patient (YH2065) using the polymerase chain reaction to amplify cDNA synthesized from total RNA from her fibroblasts. Cells from this patient had previously been shown to synthesize a labile variant SCAD in contrast to the normal stability of variant SCADs in two o...
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The c.625G>A variant of the short-chain acyl-CoA dehydrogenase (SCAD) gene is considered to confer susceptibility for developing “clinical SCAD deficiency (SCADD)” and appears to be common in the general population. To determine the frequency of the c.625G>A variant in the Netherlands, we analyzed 1036 screening cards of 5to 8-dayold newborns and found 5.5% homozygous and 31.3% heterozygous for...
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متن کامل[Short-chain acyl-CoA dehydrogenase (SCAD) deficiency].
inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Adherence to this guideline does not necessarily ensure a successful medical outcome. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstan...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2008
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2008.09.007