(Q67248787)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3149698%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

title

alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3149698%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

1 reference

O P van Diggelen

1

1 reference

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11 September 2019

D Schindler

2

1 reference

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11 September 2019

R Willemsen

3

1 reference

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11 September 2019

M Boer

4

1 reference

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11 September 2019

W J Kleijer

5

1 reference

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11 September 2019

J G Huijmans

6

1 reference

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11 September 2019

W Blom

7

1 reference

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11 September 2019

H Galjaard

8

1 reference

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11 September 2019

publication date

1 January 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3149698%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

11 September 2019

published in

1 reference

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11 September 2019

volume

11

1 reference

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11 September 2019

issue

4

1 reference

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11 September 2019

page(s)

349-357

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf01800424

11 September 2019

exact match

0 references

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Beta-mannosidosis in two brothers with hearing loss

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Immunocytochemical localization of lysosomal acid phosphatase in normal and "I-cell" fibroblasts

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1 reference

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1 reference

12 December 2020

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1 reference

12 December 2020

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1 reference

12 December 2020

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1 reference

12 December 2020

Human beta-mannosidase deficiency

1 reference

12 December 2020

Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease

1 reference

12 December 2020

Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II

1 reference

12 December 2020

Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease)

1 reference

12 December 2020

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

1 reference

12 December 2020

Human beta-mannosidase deficiency

1 reference

12 December 2020

Alpha-N-acetylgalactosaminidase: Isolation, properties and distribution of the human enzyme

1 reference

12 December 2020