BIOCHEMICAL VERSUS MOLECULAR NEWBORN SCREENING

被引:1
作者
NAYLOR, EW [1 ]
机构
[1] NEO GEN SCREENING INC,PITTSBURGH,PA 15220
来源
SCREENING | 1995年 / 4卷 / 01期
关键词
D O I
10.1016/0925-6164(95)00100-Z
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:41 / 45
页数:5
相关论文
共 15 条
[1]   IMPROVED DIAGNOSIS OF DUCHENNE BECKER MUSCULAR-DYSTROPHY [J].
BEGGS, AH ;
KUNKEL, LM .
JOURNAL OF CLINICAL INVESTIGATION, 1990, 85 (03) :613-619
[2]   DELETION SCREENING OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS VIA MULTIPLEX DNA AMPLIFICATION [J].
CHAMBERLAIN, JS ;
GIBBS, RA ;
RANIER, JE ;
NGUYEN, PN ;
CASKEY, CT .
NUCLEIC ACIDS RESEARCH, 1988, 16 (23) :11141-11156
[3]   SIMULTANEOUS SCREENING FOR 11 MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE BY MULTIPLEX AMPLIFICATION AND REVERSE DOT-BLOT [J].
CUPPENS, H ;
BUYSE, I ;
BAENS, M ;
MARYNEN, P ;
CASSIMAN, JJ .
MOLECULAR AND CELLULAR PROBES, 1992, 6 (01) :33-39
[4]   SICKLE-CELL ANEMIA AND OTHER HEMOGLOBINOPATHIES - PROCEDURES AND STRATEGY FOR SCREENING EMPLOYING SPOTS OF BLOOD ON FILTER PAPER AS SPECIMENS [J].
GARRICK, MD ;
DEMBURE, P ;
GUTHRIE, R .
NEW ENGLAND JOURNAL OF MEDICINE, 1973, 288 (24) :1265-1268
[5]   SPECIFIC DIAGNOSIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN DRIED BLOOD SPOTS BY A POLYMERASE CHAIN-REACTION (PCR) ASSAY DETECTING A POINT-MUTATION (G985) IN THE MCAD GENE [J].
GREGERSEN, N ;
BLAKEMORE, AIF ;
WINTER, V ;
ANDRESEN, B ;
KOLVRAA, S ;
BOLUND, L ;
CURTIS, D ;
ENGEL, PC .
CLINICA CHIMICA ACTA, 1991, 203 (01) :23-34
[6]   TANDEM MASS-SPECTROMETRY - A NEW METHOD FOR ACYLCARNITINE PROFILING WITH POTENTIAL FOR NEONATAL SCREENING FOR INBORN-ERRORS OF METABOLISM [J].
MILLINGTON, DS ;
KODO, N ;
NORWOOD, DL ;
ROE, CR .
JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (03) :321-324
[7]  
Naylor E.W., 1992, SCREENING, P99, DOI [10.1016/0925-6164(92)90002-M, DOI 10.1016/0925-6164(92)90002-M]
[8]  
NORGAARDPEDERSEN B, 1993, SCREENING, V2, P1
[9]  
PRIOR TW, 1990, CLIN CHEM, V36, P1756
[10]   NEONATAL SCREENING FOR CYSTIC-FIBROSIS USING IMMUNOREACTIVE TRYPSINOGEN AND DIRECT GENE ANALYSIS - 4 YEARS EXPERIENCE [J].
RANIERI, E ;
LEWIS, BD ;
GERACE, RL ;
RYALL, RG ;
MORRIS, CP ;
NELSON, PV ;
CAREY, WF ;
ROBERTSON, EF .
BRITISH MEDICAL JOURNAL, 1994, 308 (6942) :1469-1472