| Autor: |
Gibson KM; Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA., Bennett MJ, Naylor EW, Morton DH |
| Jazyk: |
angličtina |
| Zdroj: |
The Journal of pediatrics [J Pediatr] 1998 Mar; Vol. 132 (3 Pt 1), pp. 519-23. |
| DOI: |
10.1016/s0022-3476(98)70032-0 |
| Abstrakt: |
Isolated 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency was documented in four adult women from the Amish/Mennonite population of Lancaster County, Pennsylvania. Metabolic and enzymatic investigations in these individuals were instituted after the detection of abnormal acylcarnitine profiles in blood spots obtained from their newborn children, in whom MCC activity was normal. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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