Literature DB >> 3585942

Neuraminidase deficiency: case report and review of the phenotype.

I D Young, E P Young, J Mossman, A R Fielder, J R Moore.   

Abstract

A 12 year old boy with neuraminidase deficiency (sialidosis, mucolipidosis I) is described. His clinical features included coarse facies, cherry red spot, ataxia, myoclonus, and dysotosis multiplex. The level of neuraminidase activity in cultured fibroblasts was very low and intermediate levels were observed in both parents. The clinical disorders associated with neuraminidase deficiency are reviewed.

Entities:  

Mesh：

Substances：

Year:  1987        PMID： 3585942      PMCID： PMC1050052          DOI： 10.1136/jmg.24.5.283

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  31 in total

1.  The cherry-red spot--myoclonus syndrome.

Authors:  I Rapin; S Goldfischer; R Katzman; J Engel; J S O'Brien
Journal:  Ann Neurol       Date:  1978-03       Impact factor: 10.422

2.  [Lipomucopolysaccharidosis, A new storage disease].

Authors:  J Spranger; H R Wiedemann; M Tolksdorf; E Graucob; R Caesar
Journal:  Z Kinderheilkd       Date:  1968

3.  The genetic mucolipidoses. Diagnosis and differential diagnosis.

Authors:  J W Spranger; H R Wiedemann
Journal:  Humangenetik       Date:  1970

4.  Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.

Authors:  E Young; P Willcox; A E Whitfield; A D Patrick
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

5.  Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.

Authors:  M F Goldberg; E Cotlier; L G Fichenscher; K Kenyon; R Enat; S A Borowsky
Journal:  Arch Intern Med       Date:  1971-09

6.  Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia.

Authors:  G H Thomas; R E Tipton; L T Ch'ien; L W Reynolds; C S Miller
Journal:  Clin Genet       Date:  1978-04       Impact factor: 4.438

7.  The quantitative determination of glycosaminoglycans in urine with Alcian Blue 8GX.

Authors:  P Whiteman
Journal:  Biochem J       Date:  1973-02       Impact factor: 3.857

8.  A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of Hurler and Sanfilippo diseases.

Authors:  P Whiteman; H Henderson
Journal:  Clin Chim Acta       Date:  1977-08-15       Impact factor: 3.786

9.  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

10.  Mucolipidosis I--a sialidosis.

Authors:  J Sphranger; J Gehler; M Cantz
Journal:  Am J Med Genet       Date:  1977
View more
  9 in total

Review 1.  Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Authors:  A Caciotti; M Di Rocco; M Filocamo; S Grossi; F Traverso; A d'Azzo; C Cavicchi; A Messeri; R Guerrini; E Zammarchi; M A Donati; Amelia Morrone
Journal:  J Neurol       Date:  2009-07-01       Impact factor: 4.849

2.  MHC-assortative facial preferences in humans.

Authors:  S Craig Roberts; Anthony C Little; L Morris Gosling; Benedict C Jones; David I Perrett; Vaughan Carter; Marion Petrie
Journal:  Biol Lett       Date:  2005-12-22       Impact factor: 3.703

3.  Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.

Authors:  Vykuntaraju K Gowda; Varun M Srinivasan; Naveen Benakappa; Asha Benakappa
Journal:  Indian J Pediatr       Date:  2017-01-31       Impact factor: 1.967

4.  Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice.

Authors:  Xudong Wu; Katherine A Steigelman; Erik Bonten; Huimin Hu; Wenxuan He; Tianying Ren; Jian Zuo; Alessandra d'Azzo
Journal:  Biochim Biophys Acta       Date:  2009-10-24

5.  Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis.

Authors:  M Ries; K H Deeg; D Wölfel; H Ibel; B Maier; G Buheitel
Journal:  Pediatr Radiol       Date:  1992

6.  Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.

Authors:  Prajnya Ranganath; Vishakha Sharma; Sumita Danda; Madhusudan R Nandineni; Ashwin B Dalal
Journal:  Indian J Med Res       Date:  2012-12       Impact factor: 2.375

7.  Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis.

Authors:  Wenjun Zou; Xin Wang; Guohong Tian
Journal:  BMC Ophthalmol       Date:  2016-03-22       Impact factor: 2.209

Review 8.  Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.

Authors:  Aiza Khan; Consolato Sergi
Journal:  Diagnostics (Basel)       Date:  2018-04-25

9.  Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells.

Authors:  Jonathan R A Lambert; Steven J Howe; Ahad A Rahim; Derek G Burke; Simon J R Heales
Journal:  Int J Mol Sci       Date:  2019-09-05       Impact factor: 5.923
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.