Literature DB >> 4456014

[Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)].

K Harzer.   

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Year:  1974        PMID: 4456014     DOI: 10.1007/BF01466738

Source DB:  PubMed          Journal:  Klin Wochenschr        ISSN: 0023-2173


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  7 in total

1.  METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Authors:  R O BRADY; J N KANFER; D SHAPIRO
Journal:  Biochem Biophys Res Commun       Date:  1965-01-18       Impact factor: 3.575

2.  Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C.

Authors:  K Harzer; H U Benz
Journal:  J Neurochem       Date:  1973-10       Impact factor: 5.372

3.  Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes.

Authors:  E Beutler; W Kuhl
Journal:  Lancet       Date:  1970-03-21       Impact factor: 79.321

4.  Isolation and characterization of glucocerebrosidase from human placental tissue.

Authors:  P G Pentchev; R O Brady; S R Hibbert; A E Gal; D Shapiro
Journal:  J Biol Chem       Date:  1973-08-10       Impact factor: 5.157

5.  Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers.

Authors:  K Harzer
Journal:  Humangenetik       Date:  1973

6.  Identification of heterozygous carriers of lipid storage diseases. Current status and clinical applications.

Authors:  R O Brady; W G Johnson; B W Uhlendorf
Journal:  Am J Med       Date:  1971-10       Impact factor: 4.965

7.  Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

Authors:  J P Kampine; R O Brady; J N Kanfer; M Feld; D Shapiro
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728

  7 in total
  1 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

  1 in total

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