(Q39659801)

13 September 2017

title

Sanfilippo type C disease: Clinical findings in four patients with a new variant of mucopolysaccharidosis III (English)

1 reference

25 November 2022

1 reference

C. Bartsocas

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A108106

25 November 2022

H. Gröbe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A108106

25 November 2022

J. J. van de Kamp

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A108106

25 November 2022

K. von Figura

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A108106

25 November 2022

H. Kresse

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A108106

25 November 2022

U. Klein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A108106

25 November 2022

M. A. Giesberts

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A108106

25 November 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=108106

25 November 2022

publication date

1 April 1979

1 reference

13 September 2017

3 April 1979

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=108106

full work available at URL

25 November 2022

http://link.springer.com/content/pdf/10.1007/BF00441361.pdf

1 reference

http://link.springer.com/article/10.1007/BF00441361/fulltext.html

25 November 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00441361

25 November 2022

1 reference

European Journal of Pediatrics

25 November 2022

published in

1 reference

13 September 2017

volume

130

1 reference

13 September 2017

1 reference

13 September 2017

page(s)

251-258

1 reference

Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships

13 September 2017

cites work

1 reference

12 December 2020

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts

1 reference

12 December 2020

The Sanfilippo A corrective factor. Purification and mode of action

1 reference

12 December 2020

Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors

1 reference

12 December 2020

Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts

1 reference

12 December 2020

The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.

1 reference

12 December 2020

Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients

1 reference

12 December 2020

A New Biochemical Subtype of the Sanfilippo Syndrome: Characterization of the Storage Material in Cultured Fibroblasts of Sanfilippo C Patients

1 reference

12 December 2020

Human alpha-n-acetylglucosaminidase. 2. Activity towards natural substrates and multiple recognition forms

1 reference

12 December 2020

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

1 reference

12 December 2020

Sequential thin layer chromatography of urinary acidic glycosaminglycans

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00441361

1 reference

13 September 2017

1 reference