(Q45222847)

11 December 2017

title

Multiple sulfatase deficiency with early severe retinal degeneration (English)

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11 December 2017

M Harbord

1

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11 December 2017

J R Buncic

2

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11 December 2017

S A Chuang

3

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11 December 2017

M A Skomorowski

4

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11 December 2017

J T Clarke

5

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11 December 2017

publication date

1 July 1991

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Journal of Child Neurology

11 December 2017

published in

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11 December 2017

volume

6

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11 December 2017

issue

3

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11 December 2017

page(s)

229-235

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Early manifestations of multiple sulfatase deficiency

11 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600304

Selective urinary screening for mucopolysaccharidoses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600304

Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600304

Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600304

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600304

Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600304

Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600304

On the relationship of metachromatic leucodystrophy and amaurotic idiocy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600304

10.1177/088307389100600304

21 January 2018

Identifiers

DOI

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11 December 2017

1 reference