Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008 (Q34099238)

31 July 2017

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008 (English)

1 reference

31 July 2017

1 reference

Hissa Moammar

1

1 reference

31 July 2017

George Cheriyan

series ordinal

2

1 reference

31 July 2017

Revi Mathew

series ordinal

3

1 reference

31 July 2017

Nouriya Al-Sannaa

series ordinal

4

1 reference

31 July 2017

1 July 2010

1 reference

31 July 2017

Annals of Saudi Medicine

1 reference

31 July 2017

30

1 reference

31 July 2017

271-277

1 reference

31 July 2017

4

1 reference

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Saudi newborn screening. A national public health program: needs, costs, and challenges.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Genetic disorders in the Arab world

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Inborn errors of metabolism in infancy and early childhood: an update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Newborn screening for metabolic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

The incidence of inherited metabolic disorders in the West Midlands, UK.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

A new era for preventive genetic programs in the Arabian Peninsula.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Lysosomal storage disorders: emerging therapeutic options require early diagnosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

The frequency of lysosomal storage diseases in The Netherlands.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Prevalence of lysosomal storage disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Selective screening for inborn errors of metabolism--past, present and future

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Current approaches to genetic metabolic screening in newborns

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Experience of King Faisal Specialist Hospital and Research Center with Saudi organic acid disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Consanguinity among the Saudi Arabian population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti infants

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Incidence and features of galactosaemia in Saudi Arabs

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2931777

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report

28 October 2018

1 reference

12 December 2020

Follow-up study of 16 years neonatal screening for inborn errors of metabolism in West Germany

1 reference

12 December 2020

Screening for lysosomal storage disorders--a clinical perspective

1 reference

12 December 2020

Newborn screening for lysosomal storage disorders

1 reference

12 December 2020

The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia

1 reference

12 December 2020

Diagnosis of inborn errors of metabolism by tandem mass spectrometry

1 reference

12 December 2020

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

1 reference

12 December 2020

Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism

1 reference

12 December 2020

Comprehensive newborn screening program: ARAMCO experience, the national need and recommendations

1 reference

12 December 2020

Prevalence of different types of lysosomal storage diseases in Saudi Arabia

1 reference

12 December 2020

Identifiers

DOI

10.4103/0256-4947.65254

1 reference

release_uwamdoi2svaatirvvgyfiv6hzm

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/uwamdoi2svaatirvvgyfiv6hzm

24 November 2022

mapped directly with Wikidata item

PMCID

2931777

1 reference

31 July 2017

1 reference