(Q37127697)

18 August 2017

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE (English)

1 reference

lysergic acid diethylamide

18 August 2017

1 reference

Fatma A Al-Jasmi

1

1 reference

18 August 2017

Nafisa Tawfig

2

1 reference

18 August 2017

Ans Berniah

3

1 reference

18 August 2017

Bassam R Ali

4

1 reference

18 August 2017

Mahmoud Taleb

5

1 reference

18 August 2017

Jozef L Hertecant

6

1 reference

18 August 2017

Fatma Bastaki

7

1 reference

18 August 2017

Abdul-Kader Souid

8

1 reference

18 August 2017

1 January 2013

1 reference

Journal of Inherited Metabolic Disorders Reports

18 August 2017

1 reference

18 August 2017

10

1 reference

18 August 2017

1-9

1 reference

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Prevalence of lysosomal storage diseases in Portugal

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

The frequency of lysosomal storage diseases in The Netherlands.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Prevalence of lysosomal storage disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Consanguineous marriages in the United Arab Emirates

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

A novel mutation in an atypical presentation of the rare infantile Farber disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Sphingolipidoses in Turkey

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755583

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population

3 September 2018

1 reference

12 December 2020

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

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

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

1 reference

12 December 2020

A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2012_182

1 reference

18 August 2017

1 reference

18 August 2017

1 reference