Literature DB >> 233338

Ultrastructural pathology of lymphocytes in neuronal ceroid-lipofuscinoses.

K Ikeda, H H Goebel.   

Abstract

Lymphocytes were studied by electron microscopy in five cases of neuronal ceroid-lipofuscinoses (NCL), one of infantile, three of late infantile and one of juvenile types. Each type of NCL revealed specific cytoplasmic inclusions, namely, granular bodies in the infantile form, curvilinear profiles in the late infantile form and fingerprint profiles within vacuoles in the juvenile type. Survey of the literature also confirmed the high correlation between subtype of NCL and type of lymphocytic inclusion. The electron microscopic examination lymphocytes offers easily available diagnostic informations.

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Year:  1979        PMID: 233338     DOI: 10.1016/s0387-7604(79)80043-1

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  4 in total

1.  Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes.

Authors:  I Gottlob; K P Leipert; A Kohlschütter; H H Goebel
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1988       Impact factor: 3.117

2.  Fingerprint profiles in lymphocytic vacuoles of mucopolysaccharidoses I-H, II, III-A, and III-B.

Authors:  H H Goebel; K Ikeda; F Schulz; U Burck; A Kohlschütter
Journal:  Acta Neuropathol       Date:  1981       Impact factor: 17.088

3.  Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.

Authors:  K Ikeda; H H Goebel; U Burck; A Kohlschütter
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183

4.  Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.

Authors:  Sara E Mole; Angela Schulz; Eben Badoe; Samuel F Berkovic; Emily C de Los Reyes; Simon Dulz; Paul Gissen; Norberto Guelbert; Charles M Lourenco; Heather L Mason; Jonathan W Mink; Noreen Murphy; Miriam Nickel; Joffre E Olaya; Maurizio Scarpa; Ingrid E Scheffer; Alessandro Simonati; Nicola Specchio; Ina Von Löbbecke; Raymond Y Wang; Ruth E Williams
Journal:  Orphanet J Rare Dis       Date:  2021-04-21       Impact factor: 4.123

  4 in total

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