(Q39831425)

15 September 2017

title

Beta-glucuronidase deficiency in a girl with unusual clinical features (English)

1 reference

14 December 2022

author name string

R. A. Pfeiffer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A144057

14 December 2022

H. Kresse

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A144057

14 December 2022

N. Bäumer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A144057

14 December 2022

E. Sattinger

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A144057

14 December 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=144057

14 December 2022

publication date

1 October 1977

1 reference

15 September 2017

12 October 1977

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=144057

full work available at URL

14 December 2022

http://link.springer.com/content/pdf/10.1007/BF00442197.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00442197/fulltext.html

14 December 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00442197

14 December 2022

1 reference

European Journal of Pediatrics

14 December 2022

published in

1 reference

15 September 2017

volume

126

1 reference

15 September 2017

issue

3

1 reference

15 September 2017

page(s)

155-161

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00442197

15 September 2017

exact match

0 references

cites work

Familial osteolysis of the carpal and tarsal bones

1 reference

12 December 2020

Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome

1 reference

12 December 2020

A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.

1 reference

12 December 2020

Hereditary osteolysis. A clinical, radiological and chemical study

1 reference

12 December 2020

Variation in the phenotypic expression of beta-glucuronidase deficiency

1 reference

12 December 2020

Beta-glucuronidase deficiency (mucopolysaccharidosis type VII)

1 reference

12 December 2020

Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses

1 reference

12 December 2020

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

1 reference

12 December 2020

Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells.

1 reference

12 December 2020

Essential osteolysis with nephropathy. A review of the literature and case report of an unusual syndrome

1 reference

12 December 2020

Chondroitin-6-sulfate mucopolysaccharidosis in conjuntion withlymphopenia, defective cellular immunity and the nephrotic syndrome

1 reference

12 December 2020

Beta-glucuronidase deficiency mucopolysaccharidosis

1 reference

12 December 2020

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

1 reference

12 December 2020

[Progressive osteolysis of the hand and tarsal bones. Casuistic contribution to the knowledge of carpotarsal osteodystrophia]

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00442197

1 reference

15 September 2017

1 reference