Literature DB >> 825940

[Skin biopsy in the diagnosis of metabolic encephalopathies].

J J Martin, C Ceuterick, J G Leroy.   

Abstract

Ultrastructural study of the skin biopsies of 23 patients with either ceroid-lipofuscinoses, mucopolysaccharidoses, mucolipidoses, acid maltase deficiency or sphingolipidoses, demonstrates the presence of relatively typical cytosomes allowing a precise diagnosis at least as early as the time of the first clinical evaluation.

Entities:  

Mesh:

Year:  1976        PMID: 825940

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  3 in total

1.  Skin and conjunctival biopsies in adrenoleukodystrophy.

Authors:  J J Martin; C Ceuterick; L Martin; J Libert
Journal:  Acta Neuropathol       Date:  1977-06-15       Impact factor: 17.088

2.  Bone marrow transplant in a case of mucopolysaccharidosis I Scheie phenotype: skin ultrastructure before and after transplantation.

Authors:  C Navarro; C Dominguez; M Costa; J J Ortega
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

3.  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 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.