Ayman W El-Hattab

Ayman W El-Hattab

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Ayman W El-Hattab

Ayman W El-Hattab

Publications by authors named "Ayman W El-Hattab"

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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
September 2019

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

Pediatr Neurol 2019 Jul 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

The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.

J Neurogenet 2019 Mar 6;33(1):21-26. Epub 2019 Feb 6.

d Division of Clinical Genetics and Metabolic Disorder , Tawam Hospital , Al-Ain , United Arab Emirates.

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http://dx.doi.org/10.1080/01677063.2018.1555249DOI Listing
March 2019

ATP13A2-related juvenile-onset Parkinson disease.

Brain Dev 2019 Feb 23;41(2):223. Epub 2018 Aug 23.

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

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http://dx.doi.org/10.1016/j.braindev.2018.08.002DOI Listing
February 2019

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Clin Genet 2019 Feb 18;95(2):325-328. Epub 2018 Nov 18.

Division of Genetic and Metabolic Disorders, Tawam Hospital, Al Ain, United Arab Emirates.

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http://doi.wiley.com/10.1111/cge.13465
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http://dx.doi.org/10.1111/cge.13465DOI Listing
February 2019

-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.

Front Genet 2019 5;10:39. Epub 2019 Feb 5.

Division of Pediatric Neurology, Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.3389/fgene.2019.00039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370620PMC
February 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

ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.

Brain Dev 2018 Oct 11;40(9):824-826. Epub 2018 Jun 11.

Division of Clinical Genetics and Metabolic Disorders, Tawam Hospital, Al Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.05.017DOI Listing
October 2018

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

Epileptic Disord 2018 Oct;20(5):401-412

Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, Department of Pediatrics, College of Medicine and Health Sciences UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1684/epd.2018.1005DOI Listing
October 2018

Extra-muscular manifestations of TK2 deficiency.

Mol Genet Metab Rep 2018 Sep 21;16:30. Epub 2018 Jun 21.

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

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http://dx.doi.org/10.1016/j.ymgmr.2018.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019690PMC
September 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

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

Mol Genet Metab 2018 06 28;124(2):124-130. Epub 2018 Apr 28.

Department of Human and Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.04.012DOI Listing
June 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

Approach to Inborn Errors of Metabolism in Pediatrics.

Pediatr Clin North Am 2018 04;65(2):xix-xx

Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, 6701 Fannin Street Suite 1560, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2018.01.001DOI Listing
April 2018

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.

J Neurogenet 2017 Mar - Jun;31(1-2):23-25

d Division of Clinical Genetics and Metabolic Disorders , Tawam Hospital , Al-Ain , United Arab Emirates.

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http://dx.doi.org/10.1080/01677063.2017.1322079DOI Listing
March 2018

The utility of arginine-citrulline stable isotope tracer infusion technique in the assessment of nitric oxide production in MELAS syndrome.

Int J Cardiol 2018 03 23;254:282. Epub 2017 Aug 23.

US Department of Agriculture/Agricultural Research Service, Department of Pediatrics, Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S01675273173300
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http://dx.doi.org/10.1016/j.ijcard.2017.06.001DOI Listing
March 2018

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Mol Genet Metab 2018 03 12;123(3):309-316. Epub 2017 Dec 12.

Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.12.009DOI Listing
March 2018

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

Pediatr Neurol 2018 01 5;78:35-40. Epub 2017 Oct 5.

Department of Medical Genetics, King Faisal Specialist Hospital, and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.002DOI Listing
January 2018

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

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.

BMC Med Genet 2017 10 23;18(1):118. Epub 2017 Oct 23.

Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/s12881-017-0482-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654040PMC
October 2017

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.

BMC Med Genet 2017 10 25;18(1):119. Epub 2017 Oct 25.

Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/s12881-017-0479-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657100PMC
October 2017

Protein C Deficiency Caused by a Novel Mutation in the Gene in an Infant with Delayed Onset Purpura Fulminans.

Case Rep Dermatol Med 2017 26;2017:8915608. Epub 2017 Sep 26.

Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, P.O. Box 15258, Al-Ain, UAE.

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http://dx.doi.org/10.1155/2017/8915608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634577PMC
September 2017

Assessment of Nitric Oxide Production in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome with the Use of a Stable Isotope Tracer Infusion Technique.

J Nutr 2017 07 17;147(7):1251-1257. Epub 2017 May 17.

US Department of Agriculture/Agricultural Research Service, Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX

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http://dx.doi.org/10.3945/jn.117.248435DOI Listing
July 2017

Mitochondrial DNA maintenance defects.

Biochim Biophys Acta Mol Basis Dis 2017 06 16;1863(6):1539-1555. Epub 2017 Feb 16.

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

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http://dx.doi.org/10.1016/j.bbadis.2017.02.017DOI Listing
June 2017

Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia.

Blood Cells Mol Dis 2017 06 24;65:73-77. Epub 2017 May 24.

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

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http://dx.doi.org/10.1016/j.bcmd.2017.05.011DOI Listing
June 2017

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

J Child Neurol 2017 05 31;32(6):543-549. Epub 2017 Jan 31.

6 Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1177/0883073817690094DOI Listing
May 2017

Letter to the Editor: "Unaltered L-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome?"

Int J Cardiol 2017 Feb 7;229:28. Epub 2016 Dec 7.

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

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http://dx.doi.org/10.1016/j.ijcard.2016.12.001DOI Listing
February 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

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients.

Am J Med Genet A 2016 12 2;170(12):3222-3226. Epub 2016 Aug 2.

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.37877DOI Listing
December 2016

Mitochondrial cytopathies.

Cell Calcium 2016 09 4;60(3):199-206. Epub 2016 Mar 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ceca.2016.03.003DOI Listing
September 2016

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.

Mol Genet Metab Rep 2016 Sep 17;8:94-8. Epub 2016 Aug 17.

Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269163006
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http://dx.doi.org/10.1016/j.ymgmr.2016.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992009PMC
September 2016

Mitochondrial Cardiomyopathies.

Front Cardiovasc Med 2016 25;3:25. Epub 2016 Jul 25.

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

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http://dx.doi.org/10.3389/fcvm.2016.00025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958622PMC
August 2016

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.06.004DOI Listing
July 2016

Serine biosynthesis and transport defects.

Mol Genet Metab 2016 07 22;118(3):153-9. Epub 2016 Apr 22.

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

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http://dx.doi.org/10.1016/j.ymgme.2016.04.010DOI Listing
July 2016

ADAT3-related intellectual disability: Further delineation of the phenotype.

Am J Med Genet A 2016 May 3;170A(5):1142-7. Epub 2016 Feb 3.

Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37578DOI Listing
May 2016

On the phenotypic spectrum of serine biosynthesis defects.

J Inherit Metab Dis 2016 05 10;39(3):373-381. Epub 2016 Mar 10.

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

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http://dx.doi.org/10.1007/s10545-016-9921-5DOI Listing
May 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

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Am J Hum Genet 2016 Mar;98(3):562-570

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.

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http://www.cell.com/ajhg/pdf/S0002-9297(16)00017-3.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971600017
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http://dx.doi.org/10.1016/j.ajhg.2016.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800043PMC
March 2016

Disorders of carnitine biosynthesis and transport.

Mol Genet Metab 2015 Nov 10;116(3):107-12. Epub 2015 Sep 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.09.004DOI Listing
November 2015

Inborn errors of metabolism.

Clin Perinatol 2015 Jun 8;42(2):413-39, x. Epub 2015 Apr 8.

Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, P.O. Box 15258, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.clp.2015.02.010DOI Listing
June 2015

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.

BMC Med Genet 2015 Mar 14;16:12. Epub 2015 Mar 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS NAB 2015, Houston, TX, 77030, U.S.A.

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http://dx.doi.org/10.1186/s12881-015-0157-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422130PMC
March 2015

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.

Mitochondrion 2014 Sep 30;18:63-9. Epub 2014 Jul 30.

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

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http://dx.doi.org/10.1016/j.mito.2014.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252755PMC
September 2014

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

J Neuropathol Exp Neurol 2014 May;73(5):425-41

From the National Institute of Nursing Research, Bethesda, Maryland (KGM); National Institute of Neurological Disorders and Stroke, Bethesda, Maryland (KZ, JD, YH, SD, CGB); Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (LM, LBR-A); Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama (PF); Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware (NP-H, MS); Prevention Genetics, Marshfield, Wisconsin (TLW); Pediatric Neurology Department, National Neuroscience Institute (AA), and Division of Medical Genetics, Department of Pediatrics, The Children's Hospital (AWE), King Fahad Medical City; and College of Medicine, King Saud bin Abdulaziz University for Health Sciences (AA,AWE), Riyadh, Kingdom of Saudi Arabia; Department of Pathology, Brigham and Women's Hospital (JAG); and Harvard Medical School (JAG), Boston, Massachusetts; Department of Pathology, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania (RE); Nemours Children's Hospital, Orlando, Florida (RF); and Medical Examiner's Office, Mount Holly, New Jersey (ICH).

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http://dx.doi.org/10.1097/NEN.0000000000000065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113964PMC
May 2014

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

J Pediatr 2014 Mar 8;164(3):553-9.e1-2. Epub 2013 Dec 8.

Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476130137
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http://dx.doi.org/10.1016/j.jpeds.2013.10.082DOI Listing
March 2014

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome.

Int J Biochem Cell Biol 2014 Mar 8;48:85-91. Epub 2014 Jan 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2013.12.009DOI Listing
March 2014

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome.

Meta Gene 2013 Dec 15;1:8-14. Epub 2013 Oct 15.

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

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http://dx.doi.org/10.1016/j.mgene.2013.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205025PMC
December 2013

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

Neurotherapeutics 2013 Apr;10(2):186-98

Division of Medical Genetics, Department of Pediatrics, The Children's Hospital, King Fahad Medical City and Faculty of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Kingdom of Saudi Arabia.

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http://link.springer.com/10.1007/s13311-013-0177-6
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http://dx.doi.org/10.1007/s13311-013-0177-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625391PMC
April 2013

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders.

Mol Genet Metab 2012 Nov 6;107(3):247-52. Epub 2012 Jul 6.

Medical Genetics Section, Department of Pediatrics, The Children's Hospital at King Fahad Medical City and King Saud bin Abdulaziz University for Health Science, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.018DOI Listing
November 2012

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.

Orphanet J Rare Dis 2012 Sep 18;7:68. Epub 2012 Sep 18.

Medical Genetics Section, Department of Pediatrics, The Children's Hospital at King Fahad Medical City and King Saud bin Abdulaziz University for Health Science, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1186/1750-1172-7-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495906PMC
September 2012

SURF1-associated Leigh syndrome: a case series and novel mutations.

Hum Mutat 2012 Aug 30;33(8):1192-200. Epub 2012 Apr 30.

Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.

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http://dx.doi.org/10.1002/humu.22095DOI Listing
August 2012

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Hum Pathol 2012 Jun 2;43(6):943-51. Epub 2012 Feb 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.humpath.2011.10.001DOI Listing
June 2012

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

Mol Genet Metab 2012 Apr 24;105(4):607-14. Epub 2012 Jan 24.

Division of Medical Genetics, Department of Child Health, University of Missouri Health Care, Columbia, MO 65212, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4093801PMC
April 2012

Chromosome 15q24 microdeletion syndrome.

Orphanet J Rare Dis 2012 Jan 4;7. Epub 2012 Jan 4.

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

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http://dx.doi.org/10.1186/1750-1172-7-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3275445PMC
January 2012

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Hum Mutat 2010 Aug;31(8):E1632-51

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/humu.21311DOI Listing
August 2010

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

Mol Genet Metab 2010 Mar 13;99(3):300-8. Epub 2009 Oct 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor plaza, Houston, TX 77030, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192090028
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http://dx.doi.org/10.1016/j.ymgme.2009.10.003DOI Listing
March 2010

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

Am J Med Genet A 2010 Feb;152A(2):504-11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Source
http://doi.wiley.com/10.1002/ajmg.a.33226
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33226DOI Listing
February 2010