Literature DB >> 8194551

Bone marrow cytological storage phenomena in lipidoses.

S Ziyeh1, K Harzer.   

Abstract

The bone marrow cytological storage phenomena in generalized lysosomal lipid storage disorders (Gaucher disease, Niemann-Pick disease, GM1-gangliosidosis, cholesterol ester storage diseases) are reviewed. The value of bone marrow cytology as a pre-screening method in the diagnostic strategy for the different diseases depends on the disease type suspected and the availability of biochemical screening methods. While cytological screening is not necessary in certain patients with typical clinical pictures, it may prove undispensable in others.

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Year:  1994        PMID: 8194551     DOI: 10.1007/bf01954507

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  22 in total

1.  Foamy transformed Gaucher cells.

Authors:  M Elleder
Journal:  Zentralbl Pathol       Date:  1992

Review 2.  Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity.

Authors:  M T Vanier; C Rodriguez-Lafrasse; R Rousson; S Duthel; K Harzer; P G Pentchev; A Revol; P Louisot
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

3.  [An infantile-juvenile, subchronically progressive lipoidosis of the sphingomyelinoses (Niemann-Pick) form--a new type? Clinical, pathohistological, electron microscopic and biochemical studies].

Authors:  H R Wiedemann; H Debuch; K Lennert; R Caesar; S Blümcke; D Harms; M Tolksdorf; P N Seng; H D Korenke; H Gerken; F Freitag; K Dörner
Journal:  Z Kinderheilkd       Date:  1972

4.  Clinical course of GM1 gangliosidoses.

Authors:  A Kohlschütter
Journal:  Neuropediatrics       Date:  1984-09       Impact factor: 1.947

5.  [Response criteria for enzyme substitution in Gaucher disease].

Authors:  F Berthold; H Sieverts; G Benz-Bohm; P Landwehr; K Harzer
Journal:  Monatsschr Kinderheilkd       Date:  1992-10       Impact factor: 0.323

6.  Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.

Authors:  E Uyama; K Takahashi; M Owada; R Okamura; M Naito; S Tsuji; S Kawasaki; S Araki
Journal:  Acta Neurol Scand       Date:  1992-10       Impact factor: 3.209

7.  Niemann-Pick disease: lipid storage in bone marrow macrophages.

Authors:  M Elleder; J Hrodek; J Cihula
Journal:  Histochem J       Date:  1983-11

8.  Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.

Authors:  D Schnabel; M Schröder; W Fürst; A Klein; R Hurwitz; T Zenk; J Weber; K Harzer; B C Paton; A Poulos
Journal:  J Biol Chem       Date:  1992-02-15       Impact factor: 5.157

9.  Pseudo-Gaucher cells in multiple myeloma.

Authors:  D C Scullin; J D Shelburne; H J Cohen
Journal:  Am J Med       Date:  1979-08       Impact factor: 4.965

10.  Pseudo-Gaucher cells preceding the appearance of immunoblastic lymphoma.

Authors:  J C Papadimitriou; A Chakravarthy; M R Heyman
Journal:  Am J Clin Pathol       Date:  1988-10       Impact factor: 2.493

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  1 in total

1.  Gaucher disease with foamy transformed macrophages and erythrophagocytic activity.

Authors:  Maciej Machaczka; Monika Klimkowska; Sofie Regenthal; Hans Hägglund
Journal:  J Inherit Metab Dis       Date:  2010-11-27       Impact factor: 4.982

  1 in total

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