Prenatal diagnosis of cystinosis by quantitative measurement of cystine in chorionic villi and cultured cells

Prenatal Diagnosis

Volumn 25, Issue 11, 2005, Pages 1045-1047

  Jackson, Marie ^a   Young, Elisabeth ^a,b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Cystinosis; Prenatal diagnosis; Quantitative cystine measurement

Indexed keywords

BINDING PROTEIN; CYSTINE; SULFUR 35;

AMNION CELL; ARTICLE; AUTORADIOGRAPHY; CELL CULTURE; CHORION; CHORION VILLUS; CONTROLLED STUDY; CYSTINOSIS; ESCHERICHIA COLI; HIGH RISK PREGNANCY; HUMAN; HUMAN CELL; HUMAN TISSUE; INCUBATION TIME; PATIENT MONITORING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DETERMINATION; QUANTITATIVE ANALYSIS; RELIABILITY; THIN LAYER CHROMATOGRAPHY;

ABORTION, EUGENIC; AMNIOCENTESIS; CELLS, CULTURED; CHORIONIC VILLI SAMPLING; CYSTINE; CYSTINOSIS; FEMALE; FETAL DISEASES; HUMANS; PREGNANCY; PREGNANCY OUTCOME;

ESCHERICHIA COLI;

EID: 28544443172     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1249     Document Type: Article

References (6)

1. Oshima RG, Willis RC, Furlong CE, Schneider JA. 1974. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples. J Biol Chem 249: 6033-6039.
2. Patrick AD, Young EP, Mossman J, Warren R, Kearney L, Rodeck CH. 1987. First trimester diagnosis of cystinosis using intact chorionic villi. Prenat Diagn 7: 71-74.
3. Smith PK, Krohn RI, Hermanson GT, et al. 1985. Measurement of protein using bicinchoninic acid. Anal Biochem 50: 76-85.
4. Smith ML, Pellett OL, Cass MMJ, et al. 1987. Prenatal diagnosis of cystinosis utilizing chorionic villus sampling. Prenat Diagn 7: 23-26.
5. Town M, Jean G, Cherqui S, et al. 1998. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18: 319-324.
6. Willcox P, Patrick AD. 1974. Biochemical diagnosis of cystinosis using cultured cells. Arch Dis Child 49: 209-212.