I-cell disease. A further report on its pathology (Q72399824)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6093421%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

I-cell disease. A further report on its pathology (English)

1 reference

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26 October 2019

author name string

J J Martin

1

1 reference

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26 October 2019

J G Leroy

2

1 reference

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26 October 2019

M van Eygen

3

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26 October 2019

C Ceuterick

4

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26 October 2019

publication date

1 January 1984

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26 October 2019

published in

Acta Neuropathologica

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26 October 2019

volume

64

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26 October 2019

issue

3

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26 October 2019

page(s)

234-242

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https://scigraph.springernature.com/pub.10.1007/bf00688114

26 October 2019

exact match

0 references

cites work

Ocular findings in I-cell disease (mucolipidosis type II)

1 reference

12 December 2020

Familial neurovisceral lipidosis

1 reference

12 December 2020

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT"

1 reference

12 December 2020

Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts

1 reference

12 December 2020

I-cell disease (mucolipidosis 11). Pathological and biochemical studies of an autopsy case

1 reference

12 December 2020

I-cell disease: a clinical picture.

1 reference

12 December 2020

Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II)

1 reference

12 December 2020

GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM?

1 reference

12 December 2020

Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

1 reference

12 December 2020

I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases.

1 reference

12 December 2020

I-cell disease (mucolipidosis II):a report on its pathology

1 reference

12 December 2020

I-cell disease: biochemical studies.

1 reference

12 December 2020

Prenatal pathology in mucopolysaccharidoses: a comparison with postnatal cases

1 reference

12 December 2020

Deficiency of UDP-N-acetylglucosamine: Lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00688114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6093421%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference