Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis

Prenatal Diagnosis

Volumn 24, Issue 11, 2004, Pages 857-860

  Korman, Stanley H ^a   Gutman, Alisa ^a   Stemmer, Edia ^a   Kay, Barrie S ^a   Ben Neriah, Ziva ^a   Zeigler, Marsha ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Arginase deficiency; Deletion; Prenatal diagnosis

Indexed keywords

ARGINASE;

ADULT; ARAB; ARTICLE; CHORION VILLUS; CLINICAL ARTICLE; CLINICAL FEATURE; CORDOCENTESIS; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; ENZYME ASSAY; ERYTHROCYTE; ETHNIC GROUP; FEMALE; FETAL ERYTHROCYTE ARGINASE ASSAY; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; INTRON; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; ARGINASE; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; ERYTHROCYTES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS;

EID: 9644307928     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1000     Document Type: Article

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