(Q52100083)

22 April 2018

title

Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. (English)

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22 April 2018

author name string

L Caimi

1

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22 April 2018

G Tettamanti

2

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22 April 2018

B Berra

3

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22 April 2018

F Omodeo Sale

4

1 reference

22 April 2018

C Borrone

5

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22 April 2018

R Gatti

6

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22 April 2018

P Durand

7

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22 April 2018

J J Martin

8

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22 April 2018

publication date

1 January 1982

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22 April 2018

Journal of Inherited Metabolic Disease

published in

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22 April 2018

volume

5

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22 April 2018

issue

4

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22 April 2018

page(s)

218-224

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22 April 2018

https://scigraph.springernature.com/pub.10.1007/bf02179146

exact match

0 references

cites work

Optimal conditions for the assay of fibroblast neuraminidase with different natural substrates

1 reference

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https://api.crossref.org/works/10.1007%2FBF02179146

Carbohydrates in protein. 4. The determination of mannose in hen's-egg albumin by radioisotope dilution

21 January 2018

1 reference

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https://api.crossref.org/works/10.1007%2FBF02179146

Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02179146

The isolation of sialyllactosides with the aid of gel filtration

21 January 2018

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12 December 2020

A new procedure for the extraction, purification and fractionation of brain gangliosides

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12 December 2020

Mucolipidosis type IV: Ganglioside sialidase deficiency

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12 December 2020

Rapid, sensitive spectrophotometric method for quantitative determination of sulfatides.

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Phosphorus assay in column chromatography

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Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood

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Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method

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12 December 2020

Quantitative determination of the neutral glycosyl ceramides in human blood

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12 December 2020

Synthesis of 2'-(4-methylumbelliferyl)-.alpha.-D-N-acetylneuraminic acid and detection of skin fibroblast neuraminidase in normal humans and in sialidosis

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12 December 2020

Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system

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12 December 2020

Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

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12 December 2020

Isolation and characterization of a trisialoganglioside from mouse brain, containing 9-O-acetyl-N-acetylneuraminic acid

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12 December 2020

The pattern of mammalian brain gangliosides. II. Evaluation of the extraction procedures, postmortem changes and the effect of formalin preservation

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12 December 2020

Protein measurement with the Folin phenol reagent

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12 December 2020

A New Mucolipidosis with Psychomotor Retardation, Corneal Clouding, and Retinal Degeneration

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I-cell disease: biochemical studies.

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12 December 2020

The thiobarbituric acid assay of sialic acids

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12 December 2020

Identifiers

DOI

10.1007/BF02179146

1 reference

22 April 2018

1 reference

22 April 2018