Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family (Q73170765)

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1 November 2019

title

Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9077513%20AND%20SRC:MED&resulttype=core&format=json

pseudo-Hurler polydystrophy

1 November 2019

main subject

1 reference

F Umehara

1

1 reference

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1 November 2019

W Matsumoto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9077513%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Kuriyama

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9077513%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

K Sukegawa

4

1 reference

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1 November 2019

S Gasa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9077513%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Osame

6

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1 November 2019

publication date

1 March 1997

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Journal of the Neurological Sciences

1 November 2019

published in

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1 November 2019

volume

146

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1 November 2019

issue

2

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1 November 2019

page(s)

167-172

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Spastic quadriparesis due to C1–C2 subluxation in hurler syndrome

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

Impaired Phosphorylation of Lysosomal Enzymes in Fibroblasts of Patients with Mucolipidosis III

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

Mucolipidosis type III. Multiple elevated serum and urine enzyme activities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

Mucolipidosis III is genetically heterogeneous

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

Compressive myelopathy associated with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

I-cell disease: activities of lysosomal enzymes toward natural and synthetic substrates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2896%2900301-2

10.1016/S0022-510X(96)00301-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9077513%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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