Literature DB >> 4328491

In utero diagnosis of Niemann-Pick disease.

C J Epstein, R O Brady, E L Schneider, R M Bradley, D Shapiro.   

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Year:  1971        PMID： 4328491      PMCID： PMC1706757     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  11 in total

1.  Prenatal diagnosis of Tay-Sachs disease.

Authors:  L Schneck; C Valenti; D Amsterdam; J Friedland; M Adachi; B W Volk
Journal:  Lancet       Date:  1970-03-21       Impact factor: 79.321

2.  Role of amniocentesis in the intrauterine detection of genetic disorders.

Authors:  H L Nadler; A B Gerbie
Journal:  N Engl J Med       Date:  1970-03-12       Impact factor: 91.245

3.  Biochemical diagnosis of an X-linked disease in utero.

Authors:  W Y Fujimoto; J E Seegmiller; B W Uhlendorf; C B Jacobson
Journal:  Lancet       Date:  1968-08-31       Impact factor: 79.321

4.  Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder.

Authors:  H L Nadler; T J Egan
Journal:  N Engl J Med       Date:  1970-02-05       Impact factor: 91.245

5.  Fabry's disease: antenatal detection.

Authors:  R O Brady; B W Uhlendorf; C B Jacobson
Journal:  Science       Date:  1971-04-09       Impact factor: 47.728

6.  Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease.

Authors:  H R Sloan; B W Uhlendorf; J N Kanfer; R O Brady; D S Fredrickson
Journal:  Biochem Biophys Res Commun       Date:  1969-03-10       Impact factor: 3.575

7.  The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.

Authors:  R O Brady; J N Kanfer; M B Mock; D S Fredrickson
Journal:  Proc Natl Acad Sci U S A       Date:  1966-02       Impact factor: 11.205

8.  The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue.

Authors:  J N Kanfer; O M Young; D Shapiro; R O Brady
Journal:  J Biol Chem       Date:  1966-03-10       Impact factor: 5.157

9.  The metabolism of ceramide trihexosides. I. Purification and properties of an enzyme that cleaves the terminal galactose molecule of galactosylgalactosylglucosylceramide.

Authors:  R O Brady; A E Gal; R M Bradley; E Mårtensson
Journal:  J Biol Chem       Date:  1967-03-10       Impact factor: 5.157

10.  In-utero detection of type-II glycogenosis (pompe's disease).

Authors:  H L Nadler; A M Messina
Journal:  Lancet       Date:  1969-12-13       Impact factor: 79.321
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  10 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

2.  Benefits from unearthing "a biochemical Rosetta Stone".

Authors:  Roscoe O Brady
Journal:  J Biol Chem       Date:  2010-10-28       Impact factor: 5.157

3.  A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.

Authors:  E L Schneider; P G Pentchev; S R Hibbert; A Sawitsky; R O Brady
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

Review 4.  Progress in investigations of sphingolipidoses.

Authors:  M Adachi; L Schneck; B W Volk
Journal:  Acta Neuropathol       Date:  1978-08-07       Impact factor: 17.088

Review 5.  Inborn errors of metabolism: principles and their applications.

Authors:  L Pinksy
Journal:  Can Med Assoc J       Date:  1972-03-18       Impact factor: 8.262

6.  Prenatal diagnosis and genetic counselling.

Authors:  D J Brock
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

7.  Prenatal detection of genetic disorders.

Authors:  C J Epstein; E L Schneider; F A Conte; S Friedman
Journal:  Am J Hum Genet       Date:  1972-03       Impact factor: 11.025

8.  Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases.

Authors:  J A Lowden; N Rudd; E Cutz; T A Doran
Journal:  Can Med Assoc J       Date:  1975-09-20       Impact factor: 8.262

Review 9.  Recent advances in ophthalmic genetics. Genetic counselling.

Authors:  B Jay
Journal:  Br J Ophthalmol       Date:  1974-04       Impact factor: 4.638

10.  Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.

Authors:  P Donnai; D Donnai; R Harris; R Stephens; E Young; S Campbell
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318
  10 in total

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