A severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1 (Q70451386)

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11 October 2019

title

A severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1 (English)

1 reference

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11 October 2019

1 reference

S Okada

1

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11 October 2019

H Sugino

2

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11 October 2019

T Kato

3

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11 October 2019

T Yutaka

4

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11 October 2019

M Koike

5

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11 October 2019

T Dezawa

6

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11 October 2019

T Yamano

7

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11 October 2019

H Yabuuchi

8

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11 October 2019

publication date

1 September 1983

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European Journal of Pediatrics

11 October 2019

published in

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11 October 2019

volume

140

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11 October 2019

issue

4

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11 October 2019

page(s)

295-298

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A severe infantile sialidosis: clinical, biochemical, and microscopic features

11 October 2019

cites work

1 reference

12 December 2020

The complementation of β-galactosidase in fused cells of mucolipidosis II with another variants of β-galactosidase deficiency using new single cell enzyme assay

1 reference

12 December 2020

Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors

1 reference

12 December 2020

Sialidosis: a review of human neuraminidase deficiency

1 reference

12 December 2020

Generalized gangliosidosis: beta-galactosidase deficiency.

1 reference

12 December 2020

Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in GM1-gangliosidosis

1 reference

12 December 2020

Neuraminidase deficiency in the original patient with the Goldberg Syndrome

1 reference

12 December 2020

A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study

1 reference

12 December 2020

Enhanced proteolytic degradation of normal beta-galactosidase in the lysosomal storage disease with combined beta-galactosidase and neuraminidase deficiency

1 reference

12 December 2020

Turnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency

1 reference

12 December 2020

A new type of sialidosis with kidney disease: nephrosialidosis. II. Anatomic study

1 reference

12 December 2020

Intergenic complementation after fusion of fibroblasts from different patients with β-galactosidase deficiency

1 reference

12 December 2020

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

1 reference

12 December 2020

Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency

1 reference

12 December 2020

Beta-galactosidase deficient-type mucolipidosis: A complementation study of neuraminidase in somatic cell hybrids

1 reference

12 December 2020

A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00442667

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6414819%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

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