Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families

Prenatal Diagnosis

Volumn 22, Issue 8, 2002, Pages 725-729

  Lin, S K ^a   Hsu, S G ^a   Ho, E S C ^a   Tsai, C R ^a   Hseih, Y T ^a   Lo, F C ^a   Lai, H Y ^a   Chen, M H ^a  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Glutaric aciduria; Prenatal diagnosis; Ultrasound and mutational analysis

Indexed keywords

GLUTARIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; OXIDOREDUCTASE;

ACIDURIA; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHORION VILLUS SAMPLING; ECHOGRAPHY; FEMALE; GENE MUTATION; HETEROZYGOTE; HIGH RISK PREGNANCY; HUMAN; MULTIGENE FAMILY; POPULATION RESEARCH; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RELIABILITY; TAIWAN; BRAIN; EXON; GENETICS; GESTATIONAL AGE; HOMOZYGOTE; INFANT; INTRON; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; POLYMERASE CHAIN REACTION; PREGNANCY; URINE;

ADULT; BASE SEQUENCE; BRAIN; CASE REPORT; CHORIONIC VILLI SAMPLING; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GESTATIONAL AGE; GLUTARATES; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; INTRONS; MAGNETIC RESONANCE IMAGING; MUTATION; OXIDOREDUCTASES; POLYMERASE CHAIN REACTION; PREGNANCY; TAIWAN; ULTRASONOGRAPHY, PRENATAL; GLUTARYL-COA DEHYDROGENASE; HUMANS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;

EID: 0036023290     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.392     Document Type: Article

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