Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase (Q81772399)

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12 January 2020

title

Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase (English)

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12 January 2020

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5

Dorothy K Grange

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12 January 2020

author name string

David J Loren

1

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12 January 2020

Yvan Campos

2

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12 January 2020

Alessandra d'Azzo

3

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12 January 2020

Lance Wyble

4

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12 January 2020

Enid Gilbert-Barness

6

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12 January 2020

Frances V White

7

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12 January 2020

Aaron Hamvas

8

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publication date

1 July 2005

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12 January 2020

published in

Journal of Perinatology

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12 January 2020

volume

25

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12 January 2020

issue

7

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12 January 2020

page(s)

491-494

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https://scigraph.springernature.com/pub.10.1038/sj.jp.7211335

12 January 2020

exact match

0 references

cites work

Investigation of nonimmune hydrops fetalis: multidisciplinary studies are necessary for diagnosis--review of 94 cases

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7 January 2021

Sialic acid storage disease and related disorders

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Molecular pathology of NEU1 gene in sialidosis

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7 January 2021

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

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7 January 2021

A new view of Starling's hypothesis at the microstructural level

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7 January 2021

Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein

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7 January 2021

Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.

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7 January 2021

Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate

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7 January 2021

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex

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7 January 2021

Type I sialidosis: a clinical, biochemical and neuroradiological study

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7 January 2021

Clinical variability of type II sialidosis by C808T mutation

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7 January 2021

Neuraminidase deficiency presenting as non-immune hydrops fetalis

1 reference

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7 January 2021

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis

1 reference

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7 January 2021

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression

1 reference

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7 January 2021