(Q43903070)

27 November 2017

title

Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. (English)

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27 November 2017

Janine A Smith

1

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27 November 2017

Chi-Chao Chan

series ordinal

2

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27 November 2017

Ehud Goldin

series ordinal

3

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27 November 2017

Raphael Schiffmann

series ordinal

4

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27 November 2017

publication date

1 March 2002

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27 November 2017

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27 November 2017

volume

109

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27 November 2017

issue

3

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27 November 2017

page(s)

588-594

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Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

27 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Review article: mucolipidosis IV.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Mucolipidosis type IV: Clinical manifestations and natural history

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Mucolipidosis type IV: accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Constitutive achlorhydria in mucolipidosis type IV

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Muscle involvement in mucolipidosis IV

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Ocular abnormalities in mucolipidosis IV.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Retinal function in mucolipidosis IV.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Prenatal diagnosis of mucolipidosis IV by electron microscopy.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

Diagnostic role of skin or conjunctival biopsies in neurological disorders. An update

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2801%2900968-X

7 January 2021

10.1016/S0161-6420(01)00968-X

Identifiers

DOI

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27 November 2017

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