(Q39943794)

15 September 2017

title

Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II) (English)

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(75)80583-X

19 May 2022

author name string

P. Aula

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A168339

19 May 2022

J. Rapola

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A168339

19 May 2022

S. Autio

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A168339

19 May 2022

K. Raivio

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A168339

19 May 2022

O. Karjalainen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A168339

19 May 2022

language of work or name

English

0 references

publication date

1 August 1975

1 reference

full work available at URL

15 September 2017

https://api.elsevier.com/content/article/PII:S002234767580583X?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(75)80583-X

https://api.elsevier.com/content/article/PII:S002234767580583X?httpAccept=text/plain

19 May 2022

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(75)80583-X

The Journal of Pediatrics

19 May 2022

published in

1 reference

15 September 2017

volume

87

1 reference

15 September 2017

issue

2

1 reference

15 September 2017

page(s)

221-226

1 reference

I-cell disease: multiple lysosomal-enzyme defect

15 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

I-cell disease: biochemical studies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

Lymphotic inclusions in I-cell disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

Elevated activity of lysosomal enzymes in amniotic fluid of a fetus with mucolipidosis II (I-cell disease)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

Letter: Amniotic-fluid proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

Genetic heterogeneity in multiple lysosomal hydrolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

Hepatic ultrastructure and histochemistry in mucolipidosis II (I-cell disease).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2875%2980583-X

7 January 2021

Identifiers

1 reference

15 September 2017

1 reference