Laboratory diagnosis of defects of creatine biosynthesis and transport
โ Scribed by Nanda M. Verhoeven; Gajja S. Salomons; Cornelis Jakobs
- Book ID
- 116350237
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 118 KB
- Volume
- 361
- Category
- Article
- ISSN
- 0009-8981
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We report the first attempt at prenatal diagnosis of the carnitine transporter defect in a fetus at high risk of having the disorder. Analysis of cultured CVS after prolonged culture predicted that the fetus was not affected but might be heterozygous for the carnitine transporter defect, but chromos
Creatine is a nitrogen containing compound that serves as an energy shuttle between the mitochondrial sites of ATP production and the cytosol where ATP is utilized. There are two known disorders of creatine synthesis (both transmitted as autosomal recessive traits: arginine: glycine amidinotransfera