Literature DB >> 4199229

Infantile neurological Gaucher's disease in three siblings. An ultrastructural study.

F Hernández, M Bueno.   

Abstract

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Year:  1973        PMID： 4199229     DOI： 10.1007/bf00548655

Source DB:  PubMed          Journal:  Virchows Arch A Pathol Pathol Anat        ISSN： 0042-6423


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  6 in total

1.  A histochemical and electron microscopic study of Gaucher cells.

Authors:  R G Hibbs; V J Ferrans; P R Cipriano; K J Tardiff
Journal:  Arch Pathol       Date:  1970-02

2.  Cytochemical studies of lysosomes, golgi apparatus and endoplasmic reticulum in secretion and protein uptake by adrenal medulla cells of the rat.

Authors:  E Holtzman; R Dominitz
Journal:  J Histochem Cytochem       Date:  1968-05       Impact factor: 2.479

3.  Tissue acid hydrolase activities in Gaucher's disease.

Authors:  P A Ockerman; P Köhlin
Journal:  Scand J Clin Lab Invest       Date:  1968       Impact factor: 1.713

4.  Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.

Authors:  R O Brady; J N Kanfer; R M Bradley; D Shapiro
Journal:  J Clin Invest       Date:  1966-07       Impact factor: 14.808

5.  ["Gaucher cells" in chronic myelocytic leukemia].

Authors:  M Albrecht
Journal:  Klin Wochenschr       Date:  1969-07-15

6.  Fine structure of central nervous system in early infantile Gaucher's disease.

Authors:  M Adachi; B J Wallace; L Schneck; B W Volk
Journal:  Arch Pathol       Date:  1967-06
  6 in total
  3 in total

1.  Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.

Authors:  M Elleder
Journal:  J Inherit Metab Dis       Date:  2006-11-02       Impact factor: 4.982

Review 2.  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

3.  Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.

Authors:  Tamar Farfel-Becker; Einat B Vitner; Samuel L Kelly; Jessica R Bame; Jingjing Duan; Vera Shinder; Alfred H Merrill; Kostantin Dobrenis; Anthony H Futerman
Journal:  Hum Mol Genet       Date:  2013-09-24       Impact factor: 6.150
  3 in total

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