Phenotypic spectrum of Salla disease, a free sialic acid storage disorder (Q43981437)

28 November 2017

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder (English)

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28 November 2017

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7

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28 November 2017

Tarja T Varho

1

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28 November 2017

Liisa E Alajoki

2

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28 November 2017

Kristiina M Posti

3

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28 November 2017

Tapio T Korhonen

4

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28 November 2017

Martin G Renlund

5

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28 November 2017

Samuel R G Nyman

6

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28 November 2017

Pertti P Aula

8

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28 November 2017

1 April 2002

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28 November 2017

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26

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28 November 2017

4

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28 November 2017

267-273

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Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism

28 November 2017

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Salla disease in one non-Finnish patient

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Salla disease--rare or underdiagnosed?

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Clinical and laboratory diagnosis of Salla disease in infancy and childhood

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Magnetic resonance techniques in neuronal ceroid lipofuscinoses and some other lysosomal diseases affecting the brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Neuropathology of Salla disease

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Sialic acid storage disease

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https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Case of the month. A 3.5-year-old female with developmental delays, hepatomegaly, and coarse facies

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

White matter lesions and cognitive deficits: relevance of lesion pattern?

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900406-4

7 January 2021

10.1016/S0887-8994(01)00406-4

Identifiers

DOI

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28 November 2017

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