(Q28279472)

English

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

scientific article

In more languages

Statements

scholarly article

0 references

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

0 references

1 reference

based on heuristic

inferred from title

author name string

M Tondeur

1

0 references

J Libert

2

0 references

E Vamos

3

0 references

F Van Hoof

4

0 references

G H Thomas

5

0 references

G Strecker

6

0 references

language of work or name

0 references

publication date

October 1982

0 references

European Journal of Pediatrics

0 references

139

0 references

2

0 references

142-7

0 references

Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialuria: an original metabolic disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A severe infantile sialidosis: clinical, biochemical, and microscopic features

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialidosis: a review of human neuraminidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Salla disease": a new lysosomal storage disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialidosis (mucolipidosis I)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetic mucolipidoses. Diagnosis and differential diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Details of hepatic ultrastructure in a child with sialuria (N-acetyl-neuraminic acid)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of lysosomal storage diseases by the ultrastructural study of conjunctival biopsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aspartylglycosaminuria: a generalized storage disease. Morphological and histochemical studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oligosaccharidoses. A new concept

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The thiobarbituric acid assay of sialic acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7151835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00441499

0 references

Dimensions Publication ID

0 references

release_6qds7i2pa5gn3kpxwgvetcrf3e

1 reference

https://api.fatcat.wiki/v0/release/6qds7i2pa5gn3kpxwgvetcrf3e

24 November 2022

based on heuristic

mapped directly with Wikidata item

0 references

Springer Nature article ID

10.1007/bf00441499

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q28279472&oldid=1842686000"