Ocular ultrastructural study in a fetus with type II glycogenosis

Autor:	Pierre Danis, J.-J. Martin, C. Ceuterick, Jacques Libert
Rok vydání:	1977
Předmět:	Male Pathology medicine.medical_specialty Conjunctiva Glycogen Storage Disease -- pathology genetic structures Ophtalmologie Eye Cellular and Molecular Neuroscience chemistry.chemical_compound Pregnancy Glycogen storage disease type II medicine Glycogen storage disease Humans Pathological Fetus Retina Glycogen business.industry Eye -- ultrastructure Glycogen Storage Disease Type II Muscles Aborted Fetus Infant medicine.disease Glycogen Storage Disease Sensory Systems eye diseases Fetal Diseases -- pathology Muscles -- pathology Ophthalmology Fetal Diseases Microscopy Electron medicine.anatomical_structure chemistry Glycogen Storage Disease Type II -- pathology Female Human medicine sense organs business Sciences cognitives Conjunctiva -- ultrastructure Research Article
Zdroj:	British journal of ophthalmology, 61 (7 British journal of ophthalmology
ISSN:	0007-1161
Popis:	The general pathological and ocular studies in an aborted fetus with type II glycogenosis revealed the widespread lysosomal storage of glycogen. Obvious lesions are observed in the viscera, in the skeletal and ocular muscles, and in all ocular tissues except the pigment epithelium of the retina. Brain and heart are relatively spared. Conjunctival and skin biopsies have a diagnostic importance, since specific alterations are evident early in the course of the disease. SCOPUS: ar.j info:eu-repo/semantics/published
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4725b8c79b929aef390d7dab86704abf https://pubmed.ncbi.nlm.nih.gov/268211 Zobrazit plný text záznamu