In utero diagnosis of Niemann-Pick disease.
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Abstract
References (11)
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.
1966 • 413 citations
The Metabolism of Glucocerebrosides
1965 • 276 citations
The Metabolism of Sphingomyelin
1966 • 248 citations
Role of Amniocentesis in the Intrauterine Detection of Genetic Disorders
1970 • 222 citations
Fabry's Disease: Antenatal Detection
1971 • 130 citations
PRENATAL DIAGNOSIS OF TAY-SACHS DISEASE
1970 • 125 citations
Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease
1969 • 90 citations
The Metabolism of Ceramide Trihexosides
1967 • 90 citations
BIOCHEMICAL DIAGNOSIS OF AN X-LINKED DISEASE IN UTERO
1968 • 87 citations
IN-UTERO DETECTION OF TYPE-II GLYCOGENOSIS (POMPE'S DISEASE)
1969 • 81 citations
Deficiency of Lysosomal Acid Phosphatase
1970 • 63 citations
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