(Q52075387)

21 April 2018

title

Free sialic acid storage disease. A new Italian case. (English)

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21 April 2018

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A Fois

1

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21 April 2018

P Balestri

2

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21 April 2018

M A Farnetani

3

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21 April 2018

G M Mancini

4

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21 April 2018

P Borgogni

5

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21 April 2018

M A Margollicci

6

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21 April 2018

M Molinelli

7

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21 April 2018

C Alessandrini

8

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21 April 2018

R Gerli

9

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21 April 2018

publication date

1 March 1987

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21 April 2018

European Journal of Pediatrics

published in

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21 April 2018

volume

146

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21 April 2018

issue

2

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21 April 2018

page(s)

195-198

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21 April 2018

https://scigraph.springernature.com/pub.10.1007/bf02343235

exact match

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cites work

Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

1 reference

12 December 2020

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

1 reference

12 December 2020

A thin layer chromatographic technique for screening for sialuria

1 reference

12 December 2020

Sialidosis: a review of human neuraminidase deficiency

1 reference

12 December 2020

Clinical and laboratory diagnosis of Salla disease in infancy and childhood

1 reference

12 December 2020

"Salla disease": a new lysosomal storage disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children

1 reference

12 December 2020

N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.

1 reference

12 December 2020

N-Acetylneuraminic acid storage disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane

1 reference

12 December 2020

Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism

1 reference

12 December 2020

The thiobarbituric acid assay of sialic acids

1 reference

12 December 2020

Hyperexcretion of free N-acetylneuraminic acid--a novel type of sialuria

1 reference

12 December 2020

Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02343235

1 reference

21 April 2018

release_mfhymqu2vbcghifcggzfrqwtpq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mfhymqu2vbcghifcggzfrqwtpq

24 November 2022

mapped directly with Wikidata item

PubMed ID

3569361

1 reference

21 April 2018