A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred (Q28264277)

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English	A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred	scientific article

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29 December 2019

A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred (English)

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29 December 2019

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Landau D

1

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Cohen D

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Shalev H

3

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Pinsk V

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Yerushalmi B

5

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Zeigler M

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1 June 2004

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Molecular Genetics and Metabolism

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82

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2

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167-172

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29 December 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

Infantile sialic acid storage disease: biochemical studies

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

Increased Urinary Excretion of Free N-Acetylneuraminic Acid in Thirteen Patients with Salla Disease

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

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7 January 2021

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

Methods for the quantitative estimation of N-acetylneuraminic acid and their application to hydrolysates of sialomucoids

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

Ultrasound assessment in a case of sialic acid storage disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

Prenatal diagnosis and confirmation of infantile sialic acid storage disease

1 reference

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7 January 2021

Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case)

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7 January 2021

Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy

1 reference

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7 January 2021

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.005

7 January 2021

Case Records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 23-1997. A premature newborn infant with congenital ascites

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7 January 2021

"Salla disease": a new lysosomal storage disorder

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7 January 2021

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10.1016/J.YMGME.2004.03.005

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29 December 2019

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29 December 2019

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