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Logo of procrsmedFormerly medchtJournal of the Royal Society of MedicineProceedings of the Royal Society of Medicine
 
Proc R Soc Med. 1971 November; 64(11): 1137–1139.
PMCID: PMC1812050

Antenatal detection of genetic enzyme defects.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Benson PF, Bowser-Riley F, Giannelli F. Beta-galactosidases in fibroblasts: Hurler and Sanfilippo syndromes. N Engl J Med. 1970 Oct 29;283(18):999–1000. [PubMed]
  • Boyle JA, Raivio KO, Astrin KH, Schulman JD, Graf ML, Seegmiller JE, Jacobsen CB. Lesch-Nyhan syndrome: preventive control by prenatal diagnosis. Science. 1970 Aug 14;169(3946):688–689. [PubMed]
  • Cathro DM, Bertrand J, Coyle MG. Antenatal diagnosis of adrenocortical hyperplasia. Lancet. 1969 May 31;1(7605):1099–1099. [PubMed]
  • Dancis J. The antepartum diagnosis of genetic diseases. J Pediatr. 1968 Feb;72(2):301–302. [PubMed]
  • Danes BS, Bearn AG. Cellular metachromasia, a genetic marker for studying the mucopolysaccharidoses. Lancet. 1967 Feb 4;1(7484):241–243. [PubMed]
  • DeMars R, Sarto G, Felix JS, Benke P. Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells. Science. 1969 Jun 13;164(3885):1303–1305. [PubMed]
  • Fratantoni JC, Neufeld EF, Uhlendorf BW, Jacobson CB. Intrauterine diagnosis of the hurler and hunter syndromes. N Engl J Med. 1969 Mar 27;280(13):686–688. [PubMed]
  • Fujimoto WY, Seegmiller JE, Uhlendorf BW, Jacobson CB. Biochemical diagnosis of an X-linked disease in utero. Lancet. 1968 Aug 31;2(7566):511–512. [PubMed]
  • Ho MW, O'Brien JS. Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme. Science. 1969 Aug 8;165(3893):611–613. [PubMed]
  • Jeffcoate TN, Fliegner JR, Russell SH, Davis JC, Wade AP. Diagnosis of the adrenogenital syndrome before birth. Lancet. 1965 Sep 18;2(7412):553–555. [PubMed]
  • Justice P, Ryan C, Hsia DY, Krmpotik E. Amylo-1,6-glucosidase in human fibroblasts: studies 3 glycogen storage disease. Biochem Biophys Res Commun. 1970 May 11;39(3):301–306. [PubMed]
  • Matalon R, Dorfman A. Acid mucopolysaccharides in cultured human fibroblasts. Lancet. 1969 Oct 18;2(7625):838–841. [PubMed]
  • Matalon R, Dorfman A, Nadler HL, Jacobson CB. A chemical method for the antenatal diagnosis of mucopolysaccharidoses. Lancet. 1970 Jan 10;1(7637):83–84. [PubMed]
  • Merkatz IR, New MI, Peterson RE, Seaman MP. Prenatal diagnosis of adrenogenital syndrome by amniocentesis. J Pediatr. 1969 Dec;75(6):977–982. [PubMed]
  • Milunsky A, Littlefield JW, Kanfer JN, Kolodny EH, Shih VE, Atkins L. Prenatal genetic diagnosis. I. N Engl J Med. 1970 Dec 17;283(25):1370–1381. [PubMed]
  • Marrow G, 3rd, Schwarz RH, Hallock JA, Barness LA. Prenatal detection of methylmalonic acidemia. J Pediatr. 1970 Jul;77(1):120–123. [PubMed]
  • Nadler HL. Patterns of enzyme development utilizing cultivated human fetal cells derived from amniotic fluid. Biochem Genet. 1968 Sep;2(2):119–126. [PubMed]
  • Nadler HL, Bigley RH, Hug G. Prenatal detection of Pompe's disease. Lancet. 1970 Aug 15;2(7668):369–370. [PubMed]
  • Nadler HL, Egan TJ. Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder. N Engl J Med. 1970 Feb 5;282(6):302–307. [PubMed]
  • Nadler HL, Gerbie AB. Enzymes in noncultured amniotic fluid cells. Am J Obstet Gynecol. 1969 Mar 1;103(5):710–712. [PubMed]
  • Nadler HL, Messina AM. In-utero detection of type-II glycogenosis (pompe's disease). Lancet. 1969 Dec 13;2(7633):1277–1278. [PubMed]
  • Nichols J. Antenatal diagnosis and treatment of the adrenogenital syndrome. Lancet. 1970 Jan 10;1(7637):83–83. [PubMed]
  • Schneck L, Valenti C, Amsterdam D, Friedland J, Adachi M, Volk BW. Prenatal diagnosis of Tay-Sachs disease. Lancet. 1970 Mar 21;1(7647):582–584. [PubMed]
  • Schneider JA, Rosenbloom FM, Bradley KH, Seegmiller JE. Increased free-cystine content of fibroblasts cultured from patients with cystinosis. Biochem Biophys Res Commun. 1967 Nov 30;29(4):527–531. [PubMed]
  • Schulman JD, Fujimoto WY, Bradley KH, Seegmiller JE. Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report. J Pediatr. 1970 Sep;77(3):468–470. [PubMed]
  • Shih VE, Littlefield JW. Argininosuccinase activity in amniotic-fluid cells. Lancet. 1970 Jul 4;2(7662):45–45. [PubMed]
  • Justice P, Ryan C, Hsia DY, Krmpotik E. Amylo-1,6-glucosidase in human fibroblasts: studies 3 glycogen storage disease. Biochem Biophys Res Commun. 1970 May 11;39(3):301–306. [PubMed]
  • Stenbäck F, Ojala A. Histochemical properties of amniotic fluid cells. Acta Cytol. 1969 Jul;13(7):389–394. [PubMed]
  • Uhlendorf BW, Mudd SH. Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria. Science. 1968 May 31;160(3831):1007–1009. [PubMed]

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