Literature DB >> 4714577

Tissue culture techniques as an aid to prenatal diagnosis and genetic counselling in homocystinuria.

A H Bittles, N A Carson.   

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Year:  1973        PMID： 4714577      PMCID： PMC1012999          DOI： 10.1136/jmg.10.2.120

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland.

Authors:  N A CARSON; D W NEILL
Journal:  Arch Dis Child       Date:  1962-10       Impact factor: 3.791

2.  HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

Authors:  S H MUDD; J D FINKELSTEIN; F IRREVERRE; L LASTER
Journal:  Science       Date:  1964-03-27       Impact factor: 47.728

3.  The identification of homocystine in the urine.

Authors:  T GERRITSEN; J G VAUGHN; H A WAISMAN
Journal:  Biochem Biophys Res Commun       Date:  1962-12-19       Impact factor: 3.575

4.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

5.  Studies of the mechanism of pyridoxine-responsive homocystinuria.

Authors:  M R Seashore; J L Durant; L E Rosenberg
Journal:  Pediatr Res       Date:  1972-03       Impact factor: 3.756

6.  Transsulfuration in mammals. Microassays and tissue distributions of three enzymes of the pathway.

Authors:  S H Mudd; J D Finkelstein; F Irreverre; L Laster
Journal:  J Biol Chem       Date:  1965-11       Impact factor: 5.157

7.  Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria.

Authors:  B W Uhlendorf; S H Mudd
Journal:  Science       Date:  1968-05-31       Impact factor: 47.728

8.  HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE.

Authors:  J D FINKELSTEIN; S H MUDD; F IRREVERRE; L LASTER
Journal:  Science       Date:  1964-11-06       Impact factor: 47.728
  8 in total
  3 in total

Review 1.  Recent advances in ophthalmic genetics. Genetic counselling.

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

2.  Maternal homocystinuria: studies of an untreated mother and fetus.

Authors:  T W Kurczynski; W A Muir; L D Fleisher; J F Palomaki; G E Gaull; D K Rassin; C Abramowsky
Journal:  Arch Dis Child       Date:  1980-09       Impact factor: 3.791

3.  Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.

Authors:  A H Bittles; N A Carson
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982
  3 in total

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