Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment

Clinica Chimica Acta

Volumn 284, Issue 1, 1999, Pages 59-68

  Thuy, Le Phuc ^a   Jurecki, Elaina ^b   Nemzer, Laurie ^b   Nyhan, William L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Kaiser Permanente ^*  (United States)

Author keywords

Biotin treatment; Holocarboxylase synthetase; Prenatal diagnosis

Indexed keywords

ADENOSINE PHOSPHATE; BIOTIN; CARBOXYLASE; SYNTHETASE;

ARTICLE; CASE REPORT; CHORION VILLUS; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; FETUS; FIBROBLAST; HIGH RISK PREGNANCY; HUMAN; LYMPHOCYTE; MALE; NEWBORN; PRENATAL CARE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

BIOTIN; CARBON-NITROGEN LIGASES; CHILD, PRESCHOOL; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; FEMALE; FETAL DISEASES; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; PREGNANCY;

EID: 0032764676     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(99)00053-4     Document Type: Article

References (22)

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