Literature DB >> 4199795

Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens.

W H Murphey, L Patchen, R Guthrie.   

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Year:  1972        PMID: 4199795     DOI: 10.1007/bf00485965

Source DB:  PubMed          Journal:  Biochem Genet        ISSN: 0006-2928            Impact factor:   1.890


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  13 in total

1.  ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS.

Authors:  S TOMLINSON; R G WESTALL
Journal:  Clin Sci       Date:  1964-04       Impact factor: 6.124

2.  A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

Authors:  R GUTHRIE; A SUSI
Journal:  Pediatrics       Date:  1963-09       Impact factor: 7.124

3.  HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.

Authors:  D M BECROFT; L I PHILLIPS
Journal:  Br Med J       Date:  1965-02-27

4.  Multiple forms of glutamic-oxalacetic transaminase in tissues.

Authors:  L E DECKER; E M RAU
Journal:  Proc Soc Exp Biol Med       Date:  1963-01

5.  A simple spot screening test for galactosemia.

Authors:  E Beutler; M C Baluda
Journal:  J Lab Clin Med       Date:  1966-07

6.  Hereditary orotic aciduria. II. A urinary screening test.

Authors:  L E Rogers; F S Porter
Journal:  Pediatrics       Date:  1968-09       Impact factor: 7.124

7.  Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine.

Authors:  M E Haggard; L H Lockhart
Journal:  Am J Dis Child       Date:  1967-06

8.  Genetic variant of human erythrocyte malate dehydrogenase.

Authors:  R G Davidson; J A Cortner
Journal:  Nature       Date:  1967-08-12       Impact factor: 49.962

9.  Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia.

Authors:  H W Moser; M L Efron; H Brown; R Diamond; C G Neumann
Journal:  Am J Med       Date:  1967-01       Impact factor: 4.965

10.  Electrophoretic variation of galactose-1-phosphate uridyltransferase.

Authors:  C K Mathai; E Beutler
Journal:  Science       Date:  1966-12-02       Impact factor: 47.728

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  3 in total

1.  Newborn screening in North America.

Authors:  Bradford L Therrell; John Adams
Journal:  J Inherit Metab Dis       Date:  2007-07-23       Impact factor: 4.982

Review 2.  Clinical biochemistry of the neonatal period: immaturity, hypoxia, and metabolic disease.

Authors:  R A Harkness
Journal:  J Clin Pathol       Date:  1987-09       Impact factor: 3.411

3.  Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.

Authors:  S L Naylor; R J Klebe; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1978-12       Impact factor: 11.205

  3 in total

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