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Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

Orphanet journal of rare diseases, 2016-07, Vol.11 (1), p.94-94, Article 94

2016

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Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

Human molecular genetics, 2018-09, Vol.27 (17), p.3029-3045

2018

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Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy

Clinical genetics, 2021-04, Vol.99 (4), p.513-518

2021

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Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Human mutation, 2015-01, Vol.36 (1), p.34-38

2015

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Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

American journal of human genetics, 2013-01, Vol.92 (1), p.137-143

2013

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On the phenotypic spectrum of serine biosynthesis defects

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.373-381

2016

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MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

Human mutation, 2018-04, Vol.39 (4), p.461-470

2018

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Zellweger syndrome and secondary mitochondrial myopathy

European journal of pediatrics, 2015-04, Vol.174 (4), p.557-563

2015

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Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Nutrients, 2019-10, Vol.11 (11), p.2572

2019

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Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

Pediatric neurology, 2018-01, Vol.78, p.35-40

2018

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Case Report: Reinterpretation and Reclassification of ARSB :p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene

Frontiers in pediatrics, 2022-02, Vol.9, p.803732

2022

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De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

Molecular brain, 2021-08, Vol.14 (1), p.126-126, Article 126

2021

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Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Sultan Qaboos University medical journal, 2014-02, Vol.14 (1), p.42-49

2014

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Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

Journal of central nervous system disease, 2020, Vol.12, p.1179573520909377-1179573520909377

2020

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Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Metabolic brain disease, 2015-06, Vol.30 (3), p.687-694

2015

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A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Orphanet journal of rare diseases, 2016-10, Vol.11 (1), p.139-139, Article 139

2016

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Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1

Hepatology communications, 2022-03, Vol.6 (3), p.473-479

2022

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Can untreated PKU patients escape from intellectual disability? A systematic review

Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.149-149, Article 149

2018

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A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

European journal of medical genetics, 2017-04, Vol.60 (4), p.212-216

2017

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Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)

JIMD Reports, Volume 28, 2016-01, Vol.28, p.127-135

2016

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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Annals of clinical and translational neurology, 2020-05, Vol.7 (5), p.610-627

2020

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

JIMD Reports - Volume 10, 2013-01, Vol.10, p.1-9

2013

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Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency

Case reports in pediatrics, 2020, Vol.2020 (2020), p.1-4

2020

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Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

On the phenotypic spectrum of serine biosynthesis defects

MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

Zellweger syndrome and secondary mitochondrial myopathy

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

Case Report: Reinterpretation and Reclassification of ARSB :p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

Can untreated PKU patients escape from intellectual disability? A systematic review

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

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

Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency

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