(Q67522517)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

title

Prenatal diagnosis of mucolipidosis II (I-cell disease) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

author name string

J Gehler

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

M Cantz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

M Stoeckenius

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

J Spranger

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

publication date

1 June 1976

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

14 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

volume

122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:819273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

page(s)

201-206

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00463738

14 September 2019

exact match

0 references

cites work

"I-cell" disease: leakage of lysosomal enzymes into extracellular fluids

1 reference

12 December 2020

I-cell disease: multiple lysosomal-enzyme defect

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

1 reference

12 December 2020

I-cell disease: a clinical picture.

1 reference

12 December 2020

Metachromatic leukodystrophy: Detection in serum

1 reference

12 December 2020

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

1 reference

12 December 2020

Lysosomal enzymes of amniotic fluid in relation to gestational age.

1 reference

12 December 2020

I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases.

1 reference

12 December 2020

Studies on the pathogenetic mechanism of I-cell disease in cultured fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal diagnosis of I-cell disease

1 reference

12 December 2020

Glycosphingolipids in cultured human skin fibroblasts. II. Characterization and metabolism in fibroblasts from patients with inborn errors of glycosphingolipid and mucopolysaccharide metabolism

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

1 reference

12 December 2020