Literature DB >> 5502101

Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report.

J D Schulman, W Y Fujimoto, K H Bradley, J E Seegmiller.   

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Year:  1970        PMID： 5502101     DOI： 10.1016/s0022-3476(70)80020-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  9 in total

Review 1.  Cystinosis: a review of the different forms and of recent advances.

Authors:  W Kroll; K H Lichte
Journal:  Humangenetik       Date:  1973

Review 2.  Inborn errors of metabolism: principles and their applications.

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

3.  Prenatal diagnosis and genetic counselling.

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

4.  Biochemical diagnosis of cystinosis using cultured cells.

Authors:  P Willcox; A D Patrick
Journal:  Arch Dis Child       Date:  1974-03       Impact factor: 3.791

Review 5.  Prenatal diagnosis of inherited metabolic diseases.

Authors:  R Diukman; J D Goldberg
Journal:  West J Med       Date:  1993-09

Review 6.  Recent advances in ophthalmic genetics. Genetic counselling.

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

Review 7.  Antenatal detection of genetic enzyme defects.

Authors:  P F Benson
Journal:  Proc R Soc Med       Date:  1971-11

8.  Cysteine activation in cultured cystinotic cells. The specific activity of cysteinyl-tRNA synthetase and tRNACys and the determination of the Michaelis-Menten constants for cysteinyl-tRNA synthetase.

Authors:  J R Waterson; W P Winter; R D Schmickel
Journal:  J Clin Invest       Date:  1974-07       Impact factor: 14.808

9.  The metabolism of amino acids, peptides, and disulfides in lysosomes of fibroblasts cultured from normal individuals and those with cystinosis.

Authors:  J D Schulman; K H Bradley
Journal:  J Exp Med       Date:  1970-12-01       Impact factor: 14.307
  9 in total

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