Mohammed Almannai

Mohammed Almannai

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Mohammed Almannai

Mohammed Almannai

Publications by authors named "Mohammed Almannai"

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21Publications

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Further delineation of METTL23-associated intellectual disability.

Am J Med Genet A 2020 Feb 18. Epub 2020 Feb 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.61503DOI Listing
February 2020

Carnitine Inborn Errors of Metabolism.

Molecules 2019 Sep 6;24(18). Epub 2019 Sep 6.

Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah 27272, UAE.

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http://dx.doi.org/10.3390/molecules24183251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6766900PMC
September 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Pediatr Neurol 2019 07 18;96:40-47. Epub 2019 Feb 18.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.008DOI Listing
July 2019

Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases.

Mol Genet Metab 2018 12 16;125(4):315-321. Epub 2018 Oct 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong Special Administrative Region. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183060
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http://dx.doi.org/10.1016/j.ymgme.2018.10.003DOI Listing
December 2018

Mitochondrial DNA replication: clinical syndromes.

Essays Biochem 2018 07 20;62(3):297-308. Epub 2018 Jul 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, U.S.A.

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http://dx.doi.org/10.1042/EBC20170101DOI Listing
July 2018

Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders.

Pediatr Clin North Am 2018 04 28;65(2):279-299. Epub 2017 Dec 28.

Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Tawam Roundabout, Al-Ain 15258, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2017.11.007DOI Listing
April 2018

Newborn Screening: History, Current Status, and Future Directions.

Pediatr Clin North Am 2018 04 28;65(2):389-405. Epub 2017 Dec 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, One Baylor Plaza, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2017.11.013DOI Listing
April 2018

Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.

Mol Genet Metab 2017 11 31;122(3):39-45. Epub 2017 Aug 31.

Division of Biochemical Genetics, Baylor Genetics Laboratories, Houston, TX, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.08.011DOI Listing
November 2017

Therapies for mitochondrial diseases and current clinical trials.

Mol Genet Metab 2017 11 18;122(3):1-9. Epub 2017 Sep 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773113PMC
November 2017

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Mol Genet Metab 2017 09 29;122(1-2):60-66. Epub 2017 Jun 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Texas Children's Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612879PMC
September 2017

Arginine and citrulline for the treatment of MELAS syndrome.

J Inborn Errors Metab Screen 2017 Jan 24;5. Epub 2017 Mar 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5519148PMC
http://dx.doi.org/10.1177/2326409817697399DOI Listing
January 2017

Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.

Curr Opin Pediatr 2016 12;28(6):694-699

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.

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http://pdfs.journals.lww.com/co-pediatrics/2016/12000/Newbor
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http://dx.doi.org/10.1097/MOP.0000000000000414DOI Listing
December 2016

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.

Mol Genet Metab 2016 Apr 27;117(4):407-12. Epub 2016 Jan 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818739PMC
April 2016

Successful treatment of rhino-orbital mucormycosis with posaconazole and hyperbaric oxygen therapy.

Pediatr Hematol Oncol 2013 Apr 27;30(3):184-6. Epub 2013 Feb 27.

Department of Pediatrics, University of South Alabama, Children's & Women's Hospital, Mobile, AL 36604, USA.

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http://dx.doi.org/10.3109/08880018.2013.770587DOI Listing
April 2013