Literature DB >> 4868662

Molecular basis of hereditary disease.

H Harris.   

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Year:  1968        PMID: 4868662      PMCID: PMC1989184          DOI: 10.1136/bmj.2.5598.135

Source DB:  PubMed          Journal:  Br Med J        ISSN: 0007-1447


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  93 in total

1.  THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE.

Authors:  J DANCIS; J HUTZLER; M LEVITZ
Journal:  Pediatrics       Date:  1963-08       Impact factor: 7.124

2.  ABNORMAL HUMAN HEMOGLOBINS. IX. CHEMISTRY OF HEMOGLOBIN J-BALTIMORE.

Authors:  C BAGLIONI; D J WEATHERALL
Journal:  Biochim Biophys Acta       Date:  1963-12-13

3.  HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY.

Authors:  A S SCHNEIDER; W N VALENTINE; M HATTORI; H L HEINS
Journal:  N Engl J Med       Date:  1965-02-04       Impact factor: 91.245

4.  PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

Authors:  S TARUI; G OKUNO; Y IKURA; T TANAKA; M SUDA; M NISHIKAWA
Journal:  Biochem Biophys Res Commun       Date:  1965-05-03       Impact factor: 3.575

5.  The action of normal and atypical cholinesterase of human serum upon a series of esters of choline.

Authors:  R O DAVIES; A V MARTON; W KALOW
Journal:  Can J Biochem Physiol       Date:  1960-06

6.  The enzymatic deficiency in tyrosinemia.

Authors:  B N La Du
Journal:  Am J Dis Child       Date:  1967-01

7.  Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen.

Authors:  G Hug; W K Schubert; G Chuck
Journal:  Science       Date:  1966-09-23       Impact factor: 47.728

8.  Sulfite oxidase deficiency in man: demonstration of the enzymatic defect.

Authors:  S H Mudd; F Irreverre; L Laster
Journal:  Science       Date:  1967-06-23       Impact factor: 47.728

9.  Cystathioninuria: nature of the defect.

Authors:  G W Frimpter
Journal:  Science       Date:  1965-09-03       Impact factor: 47.728

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  2 in total

1.  Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients.

Authors:  P Beighton; A Price; J Lord; E Dickson
Journal:  Ann Rheum Dis       Date:  1969-05       Impact factor: 19.103

2.  Clinical syndromes in a sample of depressed patients: a general practice material.

Authors:  T J Fahy; S Brandon; R F Garside
Journal:  Proc R Soc Med       Date:  1969-04
  2 in total

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