Literature DB >> 4463520

Macular cherry-red spot, myoclonic epilepsy, and neurovisceral storage in a 17-year-old girl.

M L Goldstein, E H Kolodny, G G Gascon, F H Gilles.   

Abstract

Entities:  

Mesh：

Year:  1974        PMID： 4463520

Source DB:  PubMed          Journal:  Trans Am Neurol Assoc        ISSN： 0065-9479


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  5 in total

Review 1.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

2.  Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies.

Authors:  T Kobayashi; M Ohta; I Goto; Y Tanaka; Y Kuroiwa
Journal:  J Neurol       Date:  1979-09       Impact factor: 4.849

3.  beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.

Authors:  Y Suzuki; N Nakamura; K Fukuoka; Y Shimada; M Uono
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

4.  Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis.

Authors:  A C Sewell
Journal:  Eur J Pediatr       Date:  1980-09       Impact factor: 3.183

5.  Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.

Authors:  P K Thomas; J D Abrams; D Swallow; G Stewart
Journal:  J Neurol Neurosurg Psychiatry       Date:  1979-10       Impact factor: 10.154
  5 in total

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