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PMID: 4199795 Published · ppublish English Journal Article

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

Biochemical genetics ·Vol. 6 ·No. 1 ·1972-02-00 ·Pages 51-9

Murphey WH, Patchen L, Guthrie R

Abstract

暂无摘要

MeSH Terms
Amino Acid Metabolism, Inborn Errors/diagnosis Arginine/urine Bacillus subtilis/drug effects,growth & development Biological Assay Carboxy-Lyases/blood Electrophoresis, Starch Gel Enzymes/blood Erythrocytes/enzymology Glycolysis Humans Immunoelectrophoresis Infant, Newborn Lyases/blood Mass Screening Metabolism, Inborn Errors/blood Methods Orotic Acid/urine Pyrimidine Nucleotides Succinates/urine
Chemicals
Enzymes Pyrimidine Nucleotides Succinates Orotic Acid Arginine Lyases Carboxy-Lyases
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Murphey W H
Patchen L
Guthrie R
References (13)
13 references, click to expand
  1. Electrophoretic variation of galactose-1-phosphate uridyltransferase.
    Science. 1966 Dec 2;154(3753):1179-80 PMID: 5921375
  2. Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine.
    Am J Dis Child. 1967 Jun;113(6):733-40 PMID: 6026580
  3. Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia.
    Am J Med. 1967 Jan;42(1):9-26 PMID: 6016480
  4. Multiple forms of glutamic-oxalacetic transaminase in tissues.
    Proc Soc Exp Biol Med. 1963 Jan;112:144-9 PMID: 14026317
  5. HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.
    Br Med J. 1965 Feb 27;1(5434):547-52 PMID: 14243056
  6. Hereditary orotic aciduria. II. A urinary screening test.
    Pediatrics. 1968 Sep;42(3):423-8 PMID: 5677483
  7. ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS.
    Clin Sci. 1964 Apr;26:261-9 PMID: 14162426
  8. A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.
    Pediatrics. 1963 Sep;32:338-43 PMID: 14063511
  9. A simple spot screening test for galactosemia.
    J Lab Clin Med. 1966 Jul;68(1):137-41 PMID: 4380286
  10. Genetic variant of human erythrocyte malate dehydrogenase.
    Nature. 1967 Aug 12;215(5102):761-2 PMID: 6059555
  11. Enzyme studies on diploid cell strains developed from patients with hereditary orotic aciduria.
    Johns Hopkins Med J. 1967 Feb;120(2):81-8 PMID: 6021362
  12. Minimal media for quantitative studies with Bacillus subtilis.
    J Bacteriol. 1958 May;75(5):517-22 PMID: 13538918
  13. Arginosuccine aciduria.
    Am J Dis Child. 1967 Jan;113(1):162-5 PMID: 6015896
Article Info
Journal
Biochemical genetics
Abbr.
Biochem Genet
ISSN
0006-2928
DOI
10.1007/BF00485965
Published
1972-02-00
Pages
51-9
Language
English
Region
United States
NLM ID
0126611
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00485965 View journal details
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