Myoclonus epilepsy with cherry red spot in adult: A peculiar form of mucopolysaccharidosis. (A clinical, genetical, chemical and ultrastructural study)

G. C. Guazzi, Bernardino Ghetti, F. Barbieri, A. Cecio

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

A 28 yr old woman born of a consanguineous marriage suffered from myoclonus epilepsy with cherry red spot in the fundus oculi. The histochemical, ultrastructural and biochemical results obtained from liver biopsy, as well as the urinary pattern of mucopolysaccharides, suggest a particular form of mucopolysaccharidosis.

Original languageEnglish (US)
Pages (from-to)542-549
Number of pages8
JournalActa Neurologica
Volume28
Issue number5
StatePublished - 1973
Externally publishedYes

Fingerprint

Fundus Oculi
Mucopolysaccharidoses
Myoclonic Epilepsy
Glycosaminoglycans
Marriage
Biopsy
Liver

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Myoclonus epilepsy with cherry red spot in adult : A peculiar form of mucopolysaccharidosis. (A clinical, genetical, chemical and ultrastructural study). / Guazzi, G. C.; Ghetti, Bernardino; Barbieri, F.; Cecio, A.

In: Acta Neurologica, Vol. 28, No. 5, 1973, p. 542-549.

Research output: Contribution to journalArticle

@article{f35d7f402447436da5e237b8151d30a3,
title = "Myoclonus epilepsy with cherry red spot in adult: A peculiar form of mucopolysaccharidosis. (A clinical, genetical, chemical and ultrastructural study)",
abstract = "A 28 yr old woman born of a consanguineous marriage suffered from myoclonus epilepsy with cherry red spot in the fundus oculi. The histochemical, ultrastructural and biochemical results obtained from liver biopsy, as well as the urinary pattern of mucopolysaccharides, suggest a particular form of mucopolysaccharidosis.",
author = "Guazzi, {G. C.} and Bernardino Ghetti and F. Barbieri and A. Cecio",
year = "1973",
language = "English (US)",
volume = "28",
pages = "542--549",
journal = "Acta Neurologica",
issn = "0001-6276",
number = "5",

}

TY - JOUR

T1 - Myoclonus epilepsy with cherry red spot in adult

T2 - A peculiar form of mucopolysaccharidosis. (A clinical, genetical, chemical and ultrastructural study)

AU - Guazzi, G. C.

AU - Ghetti, Bernardino

AU - Barbieri, F.

AU - Cecio, A.

PY - 1973

Y1 - 1973

N2 - A 28 yr old woman born of a consanguineous marriage suffered from myoclonus epilepsy with cherry red spot in the fundus oculi. The histochemical, ultrastructural and biochemical results obtained from liver biopsy, as well as the urinary pattern of mucopolysaccharides, suggest a particular form of mucopolysaccharidosis.

AB - A 28 yr old woman born of a consanguineous marriage suffered from myoclonus epilepsy with cherry red spot in the fundus oculi. The histochemical, ultrastructural and biochemical results obtained from liver biopsy, as well as the urinary pattern of mucopolysaccharides, suggest a particular form of mucopolysaccharidosis.

UR - http://www.scopus.com/inward/record.url?scp=0015666554&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0015666554&partnerID=8YFLogxK

M3 - Article

C2 - 4207900

AN - SCOPUS:0015666554

VL - 28

SP - 542

EP - 549

JO - Acta Neurologica

JF - Acta Neurologica

SN - 0001-6276

IS - 5

ER -