(Q43801611)

26 November 2017

Mucolipidosis I--a sialidosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A610423

15 July 2022

Mucolipidosis I — A sialidosis (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

6 August 2023

author name string

Sphranger J

1

1 reference

26 November 2017

Gehler J

2

1 reference

26 November 2017

Cantz M

3

1 reference

26 November 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=610423

15 July 2022

publication date

1 January 1977

1 reference

full work available at URL

26 November 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320010104

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320010104

6 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

American Journal of Medical Genetics Part A

6 August 2023

published in

1 reference

26 November 2017

1

1 reference

26 November 2017

21-29

1 reference

26 November 2017

1

1 reference

Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts

26 November 2017

8

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

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

6 August 2023

12

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts

6 August 2023

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

Prenatal diagnosis of mucolipidosis II (I-cell disease)

6 August 2023

15

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

I-cell disease: biochemical studies.

6 August 2023

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

The New England Journal of Medicine

6 August 2023

20

285

1090

Wiesmann

1971

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

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

6 August 2023

21

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV

6 August 2023

23

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis

6 August 2023

24

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010104

6 August 2023

Identifiers

1 reference

26 November 2017

1 reference