合計: 1 |
|
PMID (PMCID) | ||
---|---|---|
19335026 |
MIXED_SAMPLE | Adult |
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs. | ||
Meir K, Fellig Y, Meiner V, Korman SH, Shaag A, Nadjari M, Soffer D, Ariel I. Pediatr Dev Pathol. 2009;12(6):481-6. |
||
Fetopsy after termination of the 7th pregnancy (sib 3) revealed micrognathia; hypospadias; cystic renal dysplasia; hepatosteatosis; and lipid accumulation in the renal tubular epithelium, myocardium, and skeletal muscle. |