Genetic approach to prenatal diagnosis in urea cycle defects

Prenatal Diagnosis

Volumn 24, Issue 5, 2004, Pages 378-383

  Häberle, Johannes ^a   Koch, Hans Georg ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Chorionic villi; Direct molecular genetics; Neonatal hyperammonemia

Indexed keywords

ARGINASE; ARGININOSUCCINATE SYNTHASE; CARBAMATE KINASE; CARBAMOYL PHOSPHATE SYNTHASE; GLUTAMATE ACETYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE; UREA DERIVATIVE;

AMNIOTIC FLUID CELL; ARGINOSUCCINATE SYNTHASE DEFICIENCY; ARTICLE; CARBAMOYL PHOSPHATE SYNTHASE DEFICIENCY; CHORION VILLUS; CLINICAL ARTICLE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME DEFICIENCY; FETUS; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; HETEROZYGOTE; HUMAN; HUMAN CELL; MOLECULAR GENETICS; N ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STANDARD; UREA CYCLE; UREA CYCLE DEFECT;

ACETYLTRANSFERASES; AMINO-ACID N-ACETYLTRANSFERASE; ARGINASE; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CHORIONIC VILLI SAMPLING; FEMALE; GENETIC SCREENING; HUMANS; METABOLISM, INBORN ERRORS; ORNITHINE CARBAMOYLTRANSFERASE; PREGNANCY; PRENATAL DIAGNOSIS; UREA;

INSERTION SEQUENCES;

EID: 2642557350     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.884     Document Type: Article

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