β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype (Q43245539)

17 November 2017

0 references

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype (English)

1 reference

17 November 2017

Tereza Moore

1

1 reference

17 November 2017

Jonathan A Bernstein

series ordinal

2

1 reference

17 November 2017

Sylvie Casson-Parkin

series ordinal

3

1 reference

17 November 2017

Tina M Cowan

series ordinal

4

1 reference

17 November 2017

22 April 2012

1 reference

Journal of Inherited Metabolic Disorders Reports

17 November 2017

1 reference

17 November 2017

7

1 reference

17 November 2017

77-79

1 reference

Crystal Structure of Human -Galactosidase: STRUCTURAL BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASES

17 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Identification of Glu-268 as the catalytic nucleophile of human lysosomal beta-galactosidase precursor by mass spectrometry

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B).

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Clinical and molecular analysis of a Japanese boy with Morquio B disease

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Structural bases of GM1 gangliosidosis and Morquio B disease

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575039

Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease

3 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23430499

12 December 2020

inferred from PubMed ID database lookup

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23430499

12 December 2020

inferred from PubMed ID database lookup

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23430499

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/8904_2012_145

1 reference

release_rxyuril7nzh3lpgkbyj6tsosrm

17 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rxyuril7nzh3lpgkbyj6tsosrm

24 November 2022

mapped directly with Wikidata item

1 reference

17 November 2017

1 reference