Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population (Q35967003)

11 August 2017

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

1 reference

11 August 2017

Bassam R Ali

7

0 references

Lihadh Al-Gazali

6

object named as

Lihadh Al-Gazali

1 reference

11 August 2017

Imen Ben-Rebeh

1

1 reference

11 August 2017

Jozef L Hertecant

2

1 reference

11 August 2017

Fatma A Al-Jasmi

3

1 reference

11 August 2017

Hanan E Aburawi

4

1 reference

11 August 2017

Said A Al-Yahyaee

5

1 reference

11 August 2017

22 November 2011

1 reference

Genetic Testing and Molecular Biomarkers

11 August 2017

1 reference

11 August 2017

16

1 reference

11 August 2017

5

1 reference

11 August 2017

366-371

1 reference

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Investigation of citrullinemia type I variants by in vitro expression studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

The PAH gene, phenylketonuria, and a paradigm shift

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Genetic disorders in the Arab world

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Newborn screening for metabolic disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

CTGA: the database for genetic disorders in Arab populations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Variations in genotype-phenotype correlations in phenylketonuria patients.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

PKU in Minas Gerais State, Brazil: mutation analysis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

United Arab Emirates: communities and community genetics

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Novel mutations cause biotinidase deficiency in Turkish children

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3354585

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

5 December 2018

1 reference

12 December 2020

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques

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

Phenylketonuria mutant alleles in different populations: missense mutation in exon 7 of phenylalanine hydroxylase gene

1 reference

12 December 2020

Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria

1 reference

12 December 2020

[Inborn errors of metabolism as rare diseases with a specific global situation]

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

10.1089/GTMB.2011.0175

1 reference

11 August 2017

1 reference

11 August 2017

1 reference