When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients (Q28235833)

1

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Marsha Zeigler

2

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Bassam Abu-Libdeh

3

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Vivi Zuri

4

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Hanna Mandel

5

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Ziva Ben Neriah

6

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Fiona Stewart

7

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Nursel Elcioglu

8

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Tareq Hindi

9

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Gideon Bach

11

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Annick Raas-Rothschild

Molecular Genetics and Metabolism

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language of work or name

English

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publication date

August 2006

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published in

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volume

88

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issue

4

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page(s)

359-63

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cites work

Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. II. Enzymatic characterization and identification of the catalytic subunit

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Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

7 January 2021

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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

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Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

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Mucolipidosis III is genetically heterogeneous

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Mucolipidosis II presenting as severe neonatal hyperparathyroidism

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The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment

7 January 2021

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Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.003

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.003

A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.003

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.003

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

7 January 2021

1 reference

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10.1016/J.YMGME.2006.03.003

7 January 2021

Identifiers

DOI

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Consolidated OpenCitations Corpus – April 2017

3374607

3374607

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Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

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