Literature DB >> 172610

An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis.

M L Arsénio-Nunes, F Goutières.   

Abstract

A skin biopsy was carried out in two children suffering from early infantile (Santavuori) and late infantile (Jansky-Bielschowsky) types of ceroid-lipofuscinosis. In both cases cytoplasmic inclusions, identical with those found in neurones, were present in the skin. Skin biopsy thus appears as a simple technique for the diagnosis of the ceroid-lipofuscinoses.

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Year:  1975        PMID： 172610      PMCID： PMC492134          DOI： 10.1136/jnnp.38.10.994

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  10 in total

1.  Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroid-lipofuscinosis.

Authors:  J Rapola; M Haltia
Journal:  Brain       Date:  1973-12       Impact factor: 13.501

2.  Involvement of sural nerve in neuronal ceroid-lipofuscinoses: report of two cases.

Authors:  E Joosten; F Gabreels; A Stadhouders; D Bolmers; A Gabreels-Festen
Journal:  Neuropadiatrie       Date:  1973-01

3.  Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy.

Authors:  S Carpenter; G Karpati; F Andermann
Journal:  Neurology       Date:  1972-02       Impact factor: 9.910

4.  A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits.

Authors:  S Carpenter; G Karpati; L S Wolfe; F Andermann
Journal:  J Neurol Sci       Date:  1973-01       Impact factor: 3.181

5.  Ultrastructural studies in late-onset amaurotic idiocy: lymphocyte inclusions as a diagnostic marker.

Authors:  C L Witzleben; K Smith; J S Nelson; P L Monteleone; D Livingston
Journal:  J Pediatr       Date:  1971-08       Impact factor: 4.406

6.  Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients.

Authors:  P Santavuori; M Haltia; J Rapola; C Raitta
Journal:  J Neurol Sci       Date:  1973-03       Impact factor: 3.181

7.  Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies.

Authors:  M Haltia; J Rapola; P Santavuori
Journal:  Acta Neuropathol       Date:  1973-10-11       Impact factor: 17.088

8.  Skin biopsy as a contribution to diagnosis in late infantile amaurotic idiocy with curvilinear bodies.

Authors:  J J Martin; K Jacobs
Journal:  Eur Neurol       Date:  1973       Impact factor: 1.710

9.  The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease.

Authors:  U J van Haelst; F J Gabreëls
Journal:  Acta Neuropathol       Date:  1972       Impact factor: 17.088

10.  On the natural history of late infantile cerebromacular degeneration.

Authors:  J S Fawcett; F Andermann; F W Wiglesworth; D L Smith
Journal:  Neurology       Date:  1966-11       Impact factor: 9.910
  10 in total
  3 in total

1.  Neuronal ceroid lipofuscinosis. Ocular histopathologic and electron microscopic studies in the late infantile, juvenile, and adult forms.

Authors:  E I Traboulsi; W R Green; M W Luckenbach; Z C de la Cruz
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1987       Impact factor: 3.117

2.  Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

Authors:  J J Martin; C Ceuterick
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-03       Impact factor: 10.154

3.  Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis.

Authors:  K Becker; H H Goebel; L Svennerholm; U Wendel; H J Bremer
Journal:  Eur J Pediatr       Date:  1979-11       Impact factor: 3.183
  3 in total

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