(Q50335970)

5 March 2018

title

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). (English)

1 reference

5 March 2018

1 reference

C E Beesley

1

1 reference

5 March 2018

M Jackson

2

1 reference

5 March 2018

E P Young

3

1 reference

5 March 2018

A Vellodi

4

1 reference

5 March 2018

B G Winchester

5

1 reference

5 March 2018

publication date

1 January 2005

1 reference

5 March 2018

Journal of Inherited Metabolic Disease

published in

1 reference

5 March 2018

volume

28

1 reference

5 March 2018

issue

5

1 reference

5 March 2018

page(s)

759-767

1 reference

5 March 2018

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

cites work

1 reference

12 December 2020

Sequence variations in the first exon of alpha-galactosidase A.

1 reference

12 December 2020

Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase

1 reference

12 December 2020

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

1 reference

12 December 2020

Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses.

1 reference

12 December 2020

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations

1 reference

12 December 2020

Modification of enzymatically amplified DNA for the detection of point mutations.

1 reference

12 December 2020

Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

1 reference

12 December 2020

Sanfilippo B syndrome: molecular defects in Greek patients.

1 reference

12 December 2020

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

1 reference

12 December 2020

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

1 reference

12 December 2020

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

1 reference

12 December 2020

Measurement of protein using bicinchoninic acid

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

NAGLU mutations underlying Sanfilippo syndrome type B.

1 reference

12 December 2020

Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by Chinese hamster ovary cells

1 reference

12 December 2020

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

1 reference

12 December 2020

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

1 reference

12 December 2020

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

1 reference

12 December 2020

4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease

1 reference

12 December 2020

Sanfilippo syndrome type A in two adult sibs

1 reference

12 December 2020

The molecular basis of Sanfilippo syndrome type B

1 reference

12 December 2020

Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations

1 reference

12 December 2020

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

1 reference

12 December 2020

Sanfilippo B disease: a re-examination of a particular sibship after 12 years

1 reference

12 December 2020

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

1 reference

12 December 2020

The laboratory diagnosis of sanfilippo disease

1 reference

12 December 2020

Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.

1 reference

12 December 2020

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B.

1 reference

12 December 2020

10.1007/S10545-005-0093-Y

Identifiers

DOI

1 reference

5 March 2018

1 reference

5 March 2018