Literature DB >> 4561868

The genetics of metabolic disorders.

D A Hopkinson.   

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Year:  1972        PMID: 4561868      PMCID: PMC2539051          DOI: 10.1136/pgmj.48.558.207

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN: 0032-5473            Impact factor:   2.401


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  12 in total

1.  Heterogeneity of the enzymatic defect in congenital methemoglobinemia.

Authors:  G E Bloom; H S Zarkowsky
Journal:  N Engl J Med       Date:  1969-10-23       Impact factor: 91.245

2.  Thiamine-responsive maple-syrup-urine disease.

Authors:  C R Scriver; S Mackenzie; C L Clow; E Delvin
Journal:  Lancet       Date:  1971-02-13       Impact factor: 79.321

Review 3.  Hereditary hemolytic anemias associated with specific erythrocyte enzymopathies.

Authors:  W N Valentine
Journal:  Calif Med       Date:  1968-04

4.  Inherited variations in human phosphohexose isomerase.

Authors:  J C Detter; P O Ways; E R Giblett; M A Baughan; D A Hopkinson; S Povey; H Harris
Journal:  Ann Hum Genet       Date:  1968-05       Impact factor: 1.670

5.  Congenital nonspherocytic hemolytic anemia associated with an unusual erythrocyte hexokinase abnormality.

Authors:  T F Necheles; U S Rai; D Cameron
Journal:  J Lab Clin Med       Date:  1970-10

6.  Enzyme and protein polymorphism in human populations.

Authors:  H Harris
Journal:  Br Med Bull       Date:  1969-01       Impact factor: 4.291

7.  Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes.

Authors:  D E Paglia; P Holland; M A Baughan; W N Valentine
Journal:  N Engl J Med       Date:  1969-01-09       Impact factor: 91.245

8.  Demonstration of an enzyme variant in a case of congenital methaemoglobinaemia.

Authors:  C A West; B D Gomperts; E R Huehns; I Kessel; J R Ashby
Journal:  Br Med J       Date:  1967-10-28

9.  Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency--a new enzyme defect of human erythrocytes.

Authors:  M A Baughan; W N Valentine; D E Paglia; P O Ways; E R Simons; Q B DeMarsh
Journal:  Blood       Date:  1968-08       Impact factor: 22.113

10.  Electrophoretic and functional variants of NADH-methemoglobin reductase in hereditary methemoglobinemia.

Authors:  H S Hsieh; E R Jaffé
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808

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  1 in total

Review 1.  The skin in genetically-controlled metabolic disorders.

Authors:  P C Newbold
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

  1 in total

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