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Literature DB >> 268211

Ocular ultrastructural study in a fetus with type II glycogenosis.

J Libert, J J Martin, C Ceuterick, P Danis.

Abstract

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.

Entities: Chemical Disease

Mesh：

Year: 1977 PMID： 268211 PMCID： PMC1043016 DOI： 10.1136/bjo.61.7.476

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

14 in total

1. AN ELECTRON MICROSCOPIC AND BIOCHEMICAL STUDY OF TYPE II GLYCOGENOSIS.

Authors: P BAUDHUIN; H G HERS; H LOEB
Journal: Lab Invest Date: 1964-09 Impact factor: 5.662

2. OCULAR HISTOPATHOLOGY IN GENERALIZED GLYCOGENOSIS (POMEPE'S DISEASE).

Authors: D TOUSSAINT; P DANIS
Journal: Arch Ophthalmol Date: 1965-03

3. Electron microscopy of ocular muscle in type II glycogenosis (Pompe's disease).

Authors: R S Smith; R D Reinecke
Journal: Am J Ophthalmol Date: 1972-06 Impact factor: 5.258

4. [Prenatal diagnosis of glycogenosis type II (Pompe) and subsequent therapeutic abortion (author's transl)].

Authors: J Schaub; M Osang; D B von Bassewitz; W Grote; R Terinde; I Lombeck; H J Bremer
Journal: Dtsch Med Wochenschr Date: 1974-11-01 Impact factor: 0.628

5. The spectrum and diagnosis of acid maltase deficiency.

Authors: A G Engel; M R Gomez; M E Seybold; E H Lambert
Journal: Neurology Date: 1973-01 Impact factor: 9.910

6. In-utero detection of type-II glycogenosis (pompe's disease).

Authors: H L Nadler; A M Messina
Journal: Lancet Date: 1969-12-13 Impact factor: 79.321

7. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

Authors: H G HERS
Journal: Biochem J Date: 1963-01 Impact factor: 3.857

8. Ocular pathology of infantile Niemann-Pick disease. Study of fetus of 23 weeks' gestation.

Authors: E L Howes; I S Wood; M Golbus; M L Hogan
Journal: Arch Ophthalmol Date: 1975-07

9. Acid maltase deficiency (type II glycogenosis). Morphological and biochemical study of a childhood phenotype.

Authors: J J Martin; T De Barsy; J G Leroy; G Palladini
Journal: J Neurol Sci Date: 1976-11 Impact factor: 3.181

10. The use of lead citrate at high pH as an electron-opaque stain in electron microscopy.

Authors: E S REYNOLDS
Journal: J Cell Biol Date: 1963-04 Impact factor: 10.539

1 in total

Review 1. Pompe disease: literature review and case series.

Authors: Majed Dasouki; Omar Jawdat; Osama Almadhoun; Mamatha Pasnoor; April L McVey; Ahmad Abuzinadah; Laura Herbelin; Richard J Barohn; Mazen M Dimachkie
Journal: Neurol Clin Date: 2014-08 Impact factor: 3.806

1 in total