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Showing 1 to 12 of 17 entries
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Knowledge of antibiotics among dentists in Riyadh private clinics.

The Saudi dental journal

Al-Huwayrini L, Al-Furiji S, Al-Dhurgham R, Al-Shawaf M, Al-Muhaiza M.
PMID: 24179321
Saudi Dent J. 2013 Jul;25(3):119-24. doi: 10.1016/j.sdentj.2013.05.001. Epub 2013 Jun 26.

INTRODUCTION: Dentists prescribe antibiotics for both therapeutic and prophylactic reasons to manage oral and dental infections. Antibiotic prescriptions can be associated with unfavorable side effects and the development of resistance.AIM OF THE STUDY: A survey was conducted among dental...

Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy.

International journal of pediatrics & adolescent medicine

AlFaris HS, Elhissi G, Chedrawi A, Al-Muhaizea MA.
PMID: 33718579
Int J Pediatr Adolesc Med. 2021 Mar;8(1):52-54. doi: 10.1016/j.ijpam.2020.01.003. Epub 2020 Jan 17.

Recessive congenital methemoglobinemia (RCM) is a rare neurological disorder caused by a deficiency in NADH-CYB5R. RCM has two main types I&II, with cyanosis being the hallmark feature in both. Type-I is a mild form, with cyanosis being the only...

Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study.

Translational neuroscience

Almobarak S, Almuhaizea M, Abukhaled M, Alyamani S, Dabbagh O, Chedrawi A, Khan S, Aldhalaan H.
PMID: 30479846
Transl Neurosci. 2018 Nov 12;9:154-160. doi: 10.1515/tnsci-2018-0023. eCollection 2018.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population. This was a retrospective chart review study of...

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.

Brain : a journal of neurology

Medico Salsench E, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M, Abbas Al-Sannaa N, Girgis MY, Silveira TRD, Bauer P, Schroeder A, Fong CT, Begtrup A, Babaei M, Toosi MB, Ashrafzadeh F, Imannezhad S, Doosti M, Ahangari N, Najarzadeh Torbati P, Ghayoor Karimiani E, Murphy D, Cali E, Kaya IH, AlMuhaizea M, Colak D, Cardona-Londoño KJ, Arold ST, Houlden H, Bertoli-Avella A, Kaya N, Barakat TS.
PMID: 34373908
Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297.

No abstract available.

Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic.

Frontiers in pediatrics

Bamaga AK, Alghamdi F, Alshaikh N, Altwaijri W, Bashiri FA, Hundallah K, Abukhaled M, Muthaffar OY, Al-Mehmadi S, Jamaly TA, Al-Muhaizea MA, Al-Saman A.
PMID: 33681102
Front Pediatr. 2021 Feb 17;9:629549. doi: 10.3389/fped.2021.629549. eCollection 2021.

No abstract available.

Phenotypic Variability of .

Genes

AlMuhaizea M, Dabbagh O, AlQudairy H, AlHargan A, Alotaibi W, Sami R, AlOtaibi R, Ali MM, AlHindi H, Colak D, Kaya N.
PMID: 34828389
Genes (Basel). 2021 Nov 10;12(11). doi: 10.3390/genes12111783.

Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is...

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Human genomics

Monies D, Alhindi HN, Almuhaizea MA, Abouelhoda M, Alazami AM, Goljan E, Alyounes B, Jaroudi D, AlIssa A, Alabdulrahman K, Subhani S, El-Kalioby M, Faquih T, Wakil SM, Altassan NA, Meyer BF, Bohlega S.
PMID: 27671536
Hum Genomics. 2016 Sep 27;10(1):32. doi: 10.1186/s40246-016-0089-8.

BACKGROUND: Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %....

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.

Case reports in genetics

Wakil SM, Monies D, Hagos S, Al-Ajlan F, Finsterer J, Al Qahtani A, Ramzan K, Al Humaidy R, Al-Muhaizea MA, Meyer B, Bohlega SA.
PMID: 30643655
Case Rep Genet. 2018 Dec 12;2018:9468049. doi: 10.1155/2018/9468049. eCollection 2018.

Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to...

COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review.

Translational neuroscience

Al-Muhaizea MA, Al-Mobarak SB.
PMID: 28744372
Transl Neurosci. 2017 Jul 20;8:65-69. doi: 10.1515/tnsci-2017-0011. eCollection 2017.

Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically not...

Vanishing white matter in Saudi Arabia.

Neurosciences (Riyadh, Saudi Arabia)

Otaif MY, Al-Muhaizea MA, Al-Jofan F, Al-Dhalaan H.
PMID: 21063376
Neurosciences (Riyadh). 2008 Oct;13(4):433-6.

Vanishing white matter disease (VWMD) is an under-diagnosed condition that affects the brains white matter at all ages, especially in the pediatric age group. It belongs to a clinically and genetically heterogeneous group of disorders, collectively known as eukaryotic...

Genetics of ataxia telangiectasia in a highly consanguineous population.

Annals of human genetics

Al-Muhaizea MA, Aldeeb H, Almass R, Jaber H, Binhumaid F, Alquait L, Abukhalid M, Aldhalaan H, Alsagob M, Al-Bakheet A, Aldosary M, Alkofide H, Alrasheed MM, Colak D, Kaya N.
PMID: 34582042
Ann Hum Genet. 2021 Sep 28; doi: 10.1111/ahg.12445. Epub 2021 Sep 28.

Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed movement disorders. Biallelic mutations...

Genetics of ataxia telangiectasia in a highly consanguineous population.

Annals of human genetics

Al-Muhaizea MA, Aldeeb H, Almass R, Jaber H, Binhumaid F, Alquait L, Abukhalid M, Aldhalaan H, Alsagob M, Al-Bakheet A, Aldosary M, Alkofide H, Alrasheed MM, Colak D, Kaya N.
PMID: 34582042
Ann Hum Genet. 2022 Jan;86(1):34-44. doi: 10.1111/ahg.12445. Epub 2021 Sep 28.

Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed movement disorders. Biallelic mutations...

Showing 1 to 12 of 17 entries