European Journal of Pediatrics · 1986 · 12 citations · 13 references
Life SciencesGeneticsObstetricsHuman GeneticsEnzyme DeficienciesFetal AnomaliesInborn Errors Of MetabolismNucleotide MetabolismNucleotide Metabolism DisordersDe Novo Nucleotide Synthesis DefectsNucleoside MetabolismPhosphorylase Kinase DeficiencyPurine Nucleoside Phosphorylase DeficiencyThymidine Phosphorylase Deficiency
13
L T · The American Journal of the Medical Sciences · 1957 · 1K citations
ADENOSINE-DEAMINASE DEFICIENCY IN A CHILD DIAGNOSED PRENATALLY
Rochelle Hirschhorn, Nicholas G. Beratis, F S Rosen et al. · The Lancet · 1975 · 104 citations
Medicine, Obstetrics, Pediatrics +9
Prenatal diagnosis of ataxia telangiectasia
Meira Shaham, R. Voss, Yechiel Becker et al. · The Journal of Pediatrics · 1982 · 51 citations
Medicine, Neurology, Obstetrics +13