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Jump to main content jump to navigation nature. Com homepage publications a-z index browse by subject publishing partnerships my account submit manuscript register subscribe login cart search advanced search journal home > archive > abstracts > abstract abstract pediatric research (1978) 12, 455–455; doi:10. 1203/00006450-197804001-00553 548 prenatal diagnosis of congenital erythropoietic etic porphyria harold m nitoweky 1 , sigeru sasaa 1 , sachiko nakagawa 1 and nasseem jagani 1 1 departments of pediatrics and gynecology-obstetrics, albert einstein college of medicine, and the rockefeller university hospital, new york. Top of page abstract congenital erythropoietic porphyria (cep) is a rare disorder of porphyrin metabolism in which uroporphyrinogen i (uro i) and coproporphyrinogen i are found in great excess in tissues and excreta. This autosomal recessive disorder has been atributed to a partial deficiency of uro iii cosynthetase activity in cells of erythroid origin and other tissues. Studies of fibroblast cultures from skin of a 2 year old boy with cep revealed an accumulation of protoporphyrin after incubation with Δ-amino-levulinic acid, but no increase in uro i. A pregnancy of the mother of the patient with cep was monitored by amniocentesis at 16 weeks gestation. The amniotic fluid had a pink-brown discoloration, and extraction of the porphyrins revealed a marked increase in fluorescence in comparison with control fluids, with characteristic absorption and emission spectra. The presence of marked excess of uro i was confirmed by thin layer chromatography. cheap viagra online viagra without a doctor prescription generic viagra shipped from us http://classicmotocrossimages.com/mbs-online-order-viagra-tb/ viagra for sale viagra for sale buy viagra online viagra for sale buy cheap viagra generic viagra online Prostaglandin termination of pregnancy 4 days later confirmed the presence of excess uro i in fetal tissues. Although the diagnosis of cep can be confirmed by demonstration of reduced uro iii cosynthetase activity in amniotic cell cultures, the marked derangement of uro i formation is evident in amniotic fluid thereby facilitating prenatal diagnosis of this disorder. (supported by nih grant gm 19100) main navigation journal home accepted article preview about aap advance online publication about aop current issue archive press releases online sample issu. Email: NDS Web Services

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