Literature DB >> 5575302

Pyridoxine-responsive genetic disease.

S H Mudd.   

Abstract

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Year:  1971        PMID： 5575302

Source DB:  PubMed          Journal:  Fed Proc        ISSN： 0014-9446


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  14 in total

Review 1.  Inborn errors of metabolism: principles and their applications.

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

2.  Megavitamin therapy in inherited metabolic disorders.

Authors:  S C Kalhan
Journal:  Indian J Pediatr       Date:  1981 Sep-Oct       Impact factor: 1.967

3.  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

4.  Pyridoxol metabolism in vitamin B6-responsive convulsions of early infancy.

Authors:  A Heeley; R J Pugh; B E Clayton; J Shepherd; J Wilson
Journal:  Arch Dis Child       Date:  1978-10       Impact factor: 3.791

5.  Vitamin B 6 -responsive histidine deficiency in mutants of Salmonella typhimurium.

Authors:  G B Henderson; E E Snell
Journal:  Proc Natl Acad Sci U S A       Date:  1971-12       Impact factor: 11.205

6.  Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

Authors:  V Ramesh; A I McClatchey; N Ramesh; L A Benoit; E L Berson; V E Shih; J F Gusella
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

7.  Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Authors:  V E Shih; E L Berson; R Mandell; S Y Schmidt
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

8.  Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.

Authors:  N G Kennaway; R G Weleber; N R Buist
Journal:  Am J Hum Genet       Date:  1980-07       Impact factor: 11.025

9.  Inborn errors of metabolism. Vitamin-responsive genetic disease.

Authors:  S H Mudd
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

Review 10.  Gyrate atrophy of the choroid and retina. Approaches to therapy.

Authors:  R G Weleber; N G Kennaway; N R Buist
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031
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