(Q52111246)

22 April 2018

title

Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A610425

15 July 2022

Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

6 August 2023

1 reference

T. E. Kelly

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A610425

15 July 2022

G. Graetz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A610425

15 July 2022

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=610425

15 July 2022

publication date

1 January 1977

1 reference

22 April 2018

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320010105

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320010105

6 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

American Journal of Medical Genetics Part A

6 August 2023

published in

1 reference

22 April 2018

volume

1

1 reference

22 April 2018

issue

1

1 reference

22 April 2018

page(s)

31-46

1 reference

22 April 2018

The alkali-labile linkage between keratan sulphate and protein

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320010105

Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320010105

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

21 January 2018

2

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

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

3

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells

6 August 2023

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide

6 August 2023

5

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

Protein measurement with the Folin phenol reagent

6 August 2023

9

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

A chromogenic substrate for the investigation of neuraminidases

6 August 2023

10

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II)

6 August 2023

12

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease).

6 August 2023

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

Parallelism of subcellular location of major particulate neuraminidase and gangliosides in rabbit brain cortex

6 August 2023

17

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

Hurler-like disorders in infancy

6 August 2023

18

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes

6 August 2023

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts

6 August 2023

20

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010105

6 August 2023

Identifiers

1 reference

22 April 2018

1 reference

22 April 2018