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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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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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A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene

Journal of molecular neuroscience, 2022-06, Vol.72 (6), p.1322-1333

2022

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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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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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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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Video-assisted neck surgery: endoscopic resection of thyroid tumors with a very minimal neck wound

Journal of the American College of Surgeons, 1999-06, Vol.188 (6), p.697-703

1999

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β-caryophyllene, a dietary phytocannabinoid attenuates oxidative stress, inflammation, apoptosis and prevents structural alterations of the myocardium against doxorubicin-induced acute cardiotoxicity in rats: An in vitro and in vivo study

European journal of pharmacology, 2019-09, Vol.858, p.172467, Article 172467

2019

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Vulvar Complex Apocrine Carcinoma in a Horse (Equus caballus): A Case Report and Review of Literature

Journal of equine veterinary science, 2023-08, Vol.127, p.104495-104495, Article 104495

2023

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Clinical Outcomes of COVID-19 in Newborns and Infants: A Multicenter Experience of 576 Cases

The Pediatric infectious disease journal, 2023-06, Vol.42 (6), p.515-519

2023

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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.905-914

2015

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Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

BMC neurology, 2015-10, Vol.15 (1), p.205-205, Article 205

2015

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SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure

Molecular genetics & genomic medicine, 2018-01, Vol.6 (1), p.109-113

2018

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The Economic Burden of Candidemia and Invasive Candidiasis: A Systematic Review

Value in health regional issues, 2020-05, Vol.21, p.53-58

2020

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Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias

Clinica chimica acta, 2018-12, Vol.487, p.41-45

2018

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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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Effects of nanofibrillated cellulose hydrogels on adipose tissue extract and hepatocellular carcinoma cell spheroids in freeze-drying

Cryobiology, 2019-12, Vol.91, p.137-145

2019

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Cardiac Disease in Methylmalonic Acidemia

The Journal of pediatrics, 2011-11, Vol.159 (5), p.862-864

2011

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Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.161-167

2018

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Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism

Scientific reports, 2019-08, Vol.9 (1), p.12366-7, Article 12366

2019

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The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis

Human genetics, 2020-05, Vol.139 (5), p.657-673

2020

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Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

European journal of pediatrics, 2015-05, Vol.174 (5), p.661-668

2015

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

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

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

A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene

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

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

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

Video-assisted neck surgery: endoscopic resection of thyroid tumors with a very minimal neck wound

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

β-caryophyllene, a dietary phytocannabinoid attenuates oxidative stress, inflammation, apoptosis and prevents structural alterations of the myocardium against doxorubicin-induced acute cardiotoxicity in rats: An in vitro and in vivo study

Vulvar Complex Apocrine Carcinoma in a Horse (Equus caballus): A Case Report and Review of Literature

Clinical Outcomes of COVID-19 in Newborns and Infants: A Multicenter Experience of 576 Cases

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure

The Economic Burden of Candidemia and Invasive Candidiasis: A Systematic Review

Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias

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

Effects of nanofibrillated cellulose hydrogels on adipose tissue extract and hepatocellular carcinoma cell spheroids in freeze-drying

Cardiac Disease in Methylmalonic Acidemia

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

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