Literature DB >> 4356842

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

K Harzer, H U Benz.   

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Year:  1973        PMID： 4356842     DOI： 10.1111/j.1471-4159.1973.tb07545.x

Source DB:  PubMed          Journal:  J Neurochem        ISSN： 0022-3042            Impact factor:   5.372


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  10 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

2.  Studies on sphingomyelinase activity in cultured cells and leucocytes.

Authors:  G T Besley
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

3.  Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family.

Authors:  K Harzer; W Schlote; J Peiffer; H U Benz; A P Anzil
Journal:  Acta Neuropathol       Date:  1978-08-07       Impact factor: 17.088

4.  [Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)].

Authors:  K Harzer; K W Ruprecht; D Seuffer-Schulze; U Jans
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1978-05-02

5.  Sphingolipidoses.

Authors:  K Sandhoff
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

6.  Niemann-Pick disease. Analysis of liver tissue in sphingomyelinase-deficient patients.

Authors:  M Elleder; F Smíd; K Harzer; J Cihula
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1980

Review 7.  Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses.

Authors:  K Harzer; B C Paton; A Poulos; B Kustermann-Kuhn; W Roggendorf; T Grisar; M Popp
Journal:  Eur J Pediatr       Date:  1989-10       Impact factor: 3.183

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

Authors:  K Harzer
Journal:  Klin Wochenschr       Date:  1974-12-15

9.  An unusual case of phospholipidosis.

Authors:  M Elleder; A Jirásek; F Smíd; K Harzer; D Schlegerová
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1978-04-17

10.  Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type C.

Authors:  C Mazière; J C Mazière; L Mora; A Lageron; C Polonovski; J Polonovski
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982
  10 in total

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