(Q71939684)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7628121%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Inter- and intrafamilial variability in mucolipidosis II (I-cell disease) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7628121%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Inter‐ and intrafamilial variability in mucolipidosis II (I‐cell disease) (English)

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

20 June 2024

2

R. Barone

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7628121

20 June 2024

author name string

M. Beck

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7628121

20 June 2024

R. Hoffmann

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7628121

20 June 2024

W. Kratzer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7628121

20 June 2024

T. Rakowsky

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7628121

20 June 2024

F. Nigro

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7628121

20 June 2024

A. Fiumara

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7628121

20 June 2024

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=7628121

20 June 2024

publication date

1 April 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7628121%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

22 October 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1995.tb03958.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.1995.tb03958.x

20 June 2024

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

20 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7628121%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7628121%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7628121%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

191-199

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7628121%20AND%20SRC:MED&resulttype=core&format=json

Ultrastructural studies in fetal I-cell disease

22 October 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level

20 June 2024

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation

20 June 2024

4

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

The assay of arylsulphatases A and B in human urine

20 June 2024

5

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts

20 June 2024

8

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Prenatal diagnosis of sialidosis with combined neuraminidase and ø-galactosidase deficiency

20 June 2024

9

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases

20 June 2024

10

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

I-cell disease: a clinical picture.

20 June 2024

11

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

I-cell disease (mucolipidosis II):a report on its pathology

20 June 2024

12

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

I-cell disease. A further report on its pathology

20 June 2024

13

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Mucolipidosis II: unusual presentation with a congenital angulated fracture

20 June 2024

14

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

I-cell disease: clinical studies of 21 Japanese cases.

20 June 2024

16

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

20 June 2024

I‐cell disease

17

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

20 June 2024

19

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Cardiac involvement in mucolipidosis. Importance of non-invasive studies for detection of cardiac abnormalities

20 June 2024

22

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Neonatal presentation of I-cell disease

20 June 2024

24

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes

20 June 2024

25

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Mucolipidosis II. The clinical, radiological and biochemical features in three cases

20 June 2024

26

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Fucosidosis revisited: a review of 77 patients

20 June 2024

27

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II)

20 June 2024

28

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1995.TB03958.X

20 June 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7628121%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference