Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia

Prenatal Diagnosis

Volumn 16, Issue 5, 1996, Pages 419-424

  Mandell, Roseann ^a   Packman, Seymour ^b   Laframboise, Rachel ^c   Golbus, Mitchell S ^b   Schmidt, Kathleen ^b   Workman, Laura ^b   Saudubray, J M ^d   Shih, Vivian E ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITÉ LAVAL   (Canada)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Argininosuccinic aciduria; Citrullinaemia; Inborn error of metabolism; Prenatal diagnosis; Urea cycle disorder

Indexed keywords

AMINO ACID; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; ARGININOSUCCINIC ACID;

ACIDURIA; AMNIOCENTESIS; AMNION CELL; AMNION FLUID; ARTICLE; CELL CULTURE; CHORION; CITRULLINEMIA; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HIGH RISK PREGNANCY; HUMAN; HUMAN CELL; HUMAN TISSUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TISSUE CULTURE;

AMINO ACID METABOLISM, INBORN ERRORS; AMNIOCENTESIS; AMNIOTIC FLUID; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; ARGININOSUCCINIC ACID; CARBON RADIOISOTOPES; CELLS, CULTURED; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; CITRULLINE; FEMALE; FETAL DISEASES; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; PREGNANCY; PREGNANCY TRIMESTER, SECOND; RENAL AMINOACIDURIAS; TRITIUM;

EID: 0029894239     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199605)16:5<419::AID-PD872>3.0.CO;2-7     Document Type: Article

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