Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs

Pediatric and Developmental Pathology

Volumn 12, Issue 6, 2009, Pages 481-486

  Meir, Karen ^a   Fellig, Yakov ^a   Meiner, Vardiella ^a   Korman, Stanley H ^a   Shaag, Avraham ^a   Nadjari, Michel ^a   Soffer, Dov ^a   Ariel, Ilana ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Carnitine palmitoltransferase; Fetal autopsy; Multicycstic kidneys; Polymicrogyria

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE II; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ENZYME DEFICIENCY; FATTY LIVER; FEMALE; FETUS; FRAMESHIFT MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; HYPOSPADIAS; INFANT DISEASE; JEW; KIDNEY DYSPLASIA; MICROGNATHIA; MICROGYRIA; MISSENSE MUTATION; MULTICYSTIC DYSPLASTIC KIDNEY; PREGNANCY TERMINATION; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; CARNITINE O-PALMITOYLTRANSFERASE; FEMALE; FETUS; HUMANS; HYDROCEPHALUS; JEWS; LIPID METABOLISM, INBORN ERRORS; MALE; MULTICYSTIC DYSPLASTIC KIDNEY; PEDIGREE; PREGNANCY;

EID: 76149126107     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/08-10-0548.1     Document Type: Article

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