(Q34453867)

2 August 2017

NAGLU mutations underlying Sanfilippo syndrome type B. (English)

1 reference

2 August 2017

1 reference

A Schmidtchen

1

1 reference

2 August 2017

D Greenberg

2

1 reference

2 August 2017

H G Zhao

3

1 reference

2 August 2017

H H Li

4

1 reference

2 August 2017

Y Huang

5

1 reference

2 August 2017

P Tieu

6

1 reference

2 August 2017

H Z Zhao

7

1 reference

2 August 2017

S Cheng

8

1 reference

2 August 2017

Z Zhao

9

1 reference

2 August 2017

C B Whitley

10

1 reference

2 August 2017

P Di Natale

11

1 reference

2 August 2017

E F Neufeld

12

1 reference

2 August 2017

language of work or name

English

0 references

publication date

1 January 1998

1 reference

American Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

62

1 reference

2 August 2017

64-69

1 reference

2 August 2017

1

1 reference

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for alpha-N-acetylglucosaminidase with two cDNA isoforms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

The molecular basis of Sanfilippo syndrome type B

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

Management of mucopolysaccharidosis type III.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

4-Methylumbelliferyl 2-acetamido-2-deoxy-α-d-glucopyranoside, a fluorogenic substrate for N-acetyl-α-D-glucos-aminidase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

Neuropathological study and chemico-pathological correlation in sibling cases of Sanfilippo syndrome type B.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

Measurement of protein using bicinchoninic acid

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

MR imaging of the brain in patients with mucopolysaccharidosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

A general method for rapid site-directed mutagenesis using the polymerase chain reaction.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376809

6 July 2018

Identifiers

DOI

10.1086/301685

1 reference

release_rcktjwirbnclzend6jksacuwdq

2 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rcktjwirbnclzend6jksacuwdq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

1376809

1 reference

2 August 2017

1 reference