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Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

Clinical genetics, 2022-04, Vol.101 (4), p.403-410

2022

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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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A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency

JIMD reports, 2024-07, Vol.65 (4), p.226-232

2024

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Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.460-470

2017

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Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

Genes, 2021-08, Vol.12 (9), p.1334

2021

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Guidelines for acute management of hyperammonemia in the Middle East region

Therapeutics and clinical risk management, 2016-01, Vol.12 (Issue 1), p.479-487

2016

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Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies

Frontiers in pharmacology, 2024-02, Vol.15, p.1335058-1335058

2024

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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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Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-365, Article 365

2023

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A review of SARS-CoV-2 drug repurposing: databases and machine learning models

Frontiers in pharmacology, 2023-08, Vol.14, p.1182465-1182465

2023

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Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-344, Article 344

2023

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Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

Frontiers in pharmacology, 2017-07, Vol.8, p.448-448

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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Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-388, Article 388

2022

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Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.124-130

2018

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Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy

International journal of molecular sciences, 2023-05, Vol.24 (11), p.9119

2023

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

Brain & development (Tokyo. 1979), 2012-06, Vol.34 (6), p.533-535

Al Jasmi, Fatma

2012

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Spectrum of genetic variants in bilateral sensorineural hearing loss

Frontiers in genetics, 2024-02, Vol.15, p.1314535-1314535

2024

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Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival

Brain & development (Tokyo. 1979), 2019-01, Vol.41 (1), p.57-65

2019

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Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum

Frontiers in genetics, 2023-07, Vol.14, p.1219514

2023

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Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling

Biomedicines, 2023-12, Vol.11 (12), p.3217

2023

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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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Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

European journal of medical genetics, 2012-12, Vol.55 (12), p.671-676

2012

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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

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

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency

Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

Guidelines for acute management of hyperammonemia in the Middle East region

Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies

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

Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

A review of SARS-CoV-2 drug repurposing: databases and machine learning models

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

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

Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

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

Spectrum of genetic variants in bilateral sensorineural hearing loss

Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum

Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling

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

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

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