Publications by authors named "Fernando Scaglia"

93Publications

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

Am J Med Genet A 2020 Aug 17. Epub 2020 Aug 17.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.61786DOI Listing
August 2020

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to Variants in and .

Case Rep Pediatr 2020 17;2020:4206348. Epub 2020 Apr 17.

Department of Pediatrics, The University of Calgary and the Alberta Children's Hospital, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1155/2020/4206348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183525PMC
April 2020

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Neurol Genet 2020 Apr 2;6(2):e402. Epub 2020 Mar 2.

Department of Neurology (E.B., V.E., S.D., K.E., X.Q.R., M.H.), Columbia University Medical Center, New York; Department of Biostatistics (Y.L., V.C., J.K., J. Grier, R.B., J.L.P.T.), Mailman School of Public Health, Columbia University, New York; Radboudumc (R.S.), Nijmegen, The Netherlands; Department of Pediatrics (B.H.C.), Northeast Ohio Medical University and Akron Children's Hospital; Genetics Unit (A.K.), Massachusetts General Hospital, Boston; Department of Pediatrics (G.D.V.), State University of New York at Buffalo; Departments of Neurosciences and Pediatrics (R.H.), University of California at San Diego; Department of Pediatrics (J.L.K.V.H., A.L.), University of Colorado School of Medicine, Aurora; Department of Molecular and Human Genetics (F.S.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (F.S.), Houston; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; Department of Neurology (S.P.), Cleveland Clinic, OH; Departments of Genetics and Genome Sciences and Pediatrics (J.K.B., S.D.D.), and Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, OH; Departments of Neurology and Clinical Genomics (R.H.G.), Mayo Clinic, Rochester, MN; Department of Neurology (R.P.S.), University of Washington, Seattle Children's Hospital; Department of Pediatrics (G.M.E.), Stanford University, Palo Alto, CA; Department of Medicine (P.W.S.), University of Florida at Gainesville; Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (J. Ganesh), New York; Mitochondrial Medicine Frontier Program (Z.Z.-C., M.J.F., A.C.G.), Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; University of Pennsylvania Perelman School of Medicine (Z.Z.-C.), Philadelphia; Department of Neurology (M.T.), McMasters University, Toronto, Ontario, Canada; Department of Neurology (A.G.), Children's National Health Network, Washington, DC; Office of Dietary Supplements (K.C.), National Institutes of Health, Bethesda, MD; and Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.K.), National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164977PMC
April 2020

Sequencing data of cell-free DNA fragments in living-related liver transplantation for inborn errors of metabolism.

Data Brief 2020 Apr 25;29:105183. Epub 2020 Jan 25.

Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.

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http://dx.doi.org/10.1016/j.dib.2020.105183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013363PMC
April 2020

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.

Am J Med Genet A 2020 04 22;182(4):755-761. Epub 2020 Jan 22.

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

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http://dx.doi.org/10.1002/ajmg.a.61491DOI Listing
April 2020

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.

Neurology 2020 02 2;94(7):e687-e698. Epub 2020 Jan 2.

From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas.

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http://dx.doi.org/10.1212/WNL.0000000000008861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176297PMC
February 2020

brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.

Neurol Genet 2019 Dec 30;5(6):e366. Epub 2019 Oct 30.

Baylor College of Medicine (J.M.S., S.C.M.), Houston, TX; Texas Children's Hospital (L.Z.R., H.S., G.L., V.R., J.V.H., D.J.C., F.S., A.M.A., I.A., L.C.B., D.M.); Department of Molecular and Human Genetics (L.Z.R., H.S., H.D., F.S., L.C.B., D.M.), Baylor College of Medicine, Houston, TX; Department of Pediatrics (P.B.), Northwell Health, Division of Human Genetics and Genomics, Great Neck, NY; Department of Pathology and Immunology (Y.-S.L.), Washington University School of Medicine, St. Louis, MO; Genetics and Genomic Medicine (S.P., V.K.), UCL GOS Institute of Child Health; Pediatric Dermatology (S.P., V.K.), Great Ormond Street Hospital for Children, London, UK; Department of Dermatology (G.L., V.R.), Department of Radiology (J.V.H.), and Department of Neurosurgery (D.J.C.), Baylor College of Medicine, Houston, TX; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, Hong Kong SAR; Department of Pathology and Immunology (A.M.A), Department of Pediatrics (I.A.), and Department of Neurology (I.A.), Baylor College of Medicine, Houston, TX; and Department of Pediatrics (D.M.), Faculty of Medicine, Kuwait University, Safat, Kuwait.

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http://dx.doi.org/10.1212/NXG.0000000000000366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878837PMC
December 2019

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Mol Genet Metab 2019 12 7;128(4):431-443. Epub 2019 Nov 7.

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.2019.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6898966PMC
December 2019

Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism.

Mol Genet Metab 2019 05 14;127(1):45-50. Epub 2019 Mar 14.

Liver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183073
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http://dx.doi.org/10.1016/j.ymgme.2019.03.004DOI Listing
May 2019

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.

Am J Med Genet A 2019 06 12;179(6):1015-1019. Epub 2019 Mar 12.

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

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http://dx.doi.org/10.1002/ajmg.a.61104DOI Listing
June 2019

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.

Am J Med Genet A 2019 05 7;179(5):803-807. Epub 2019 Mar 7.

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

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http://dx.doi.org/10.1002/ajmg.a.61074DOI Listing
May 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

L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.

Mol Genet Metab Rep 2019 Jun 25;19:100453. Epub 2019 Jan 25.

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

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http://dx.doi.org/10.1016/j.ymgmr.2019.100453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355510PMC
June 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
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

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

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

Am J Med Genet A 2018 05;176(5):1184-1189

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

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http://dx.doi.org/10.1002/ajmg.a.38654DOI Listing
May 2018

The expanding neurological phenotype of DNM1L-related disorders.

Brain 2018 04;141(4):e28

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

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http://dx.doi.org/10.1093/brain/awy024DOI Listing
April 2018

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
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

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

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

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

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

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.

Am J Med Genet A 2016 10 20;170(10):2711-8. Epub 2016 Jun 20.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.37809DOI Listing
October 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

Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.

JAMA Neurol 2016 May;73(5):591-4

Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1001/jamaneurol.2015.5072DOI Listing
May 2016

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Hum Mol Genet 2016 05 29;25(9):1846-56. Epub 2016 Feb 29.

Department of Molecular and Human Genetics, Neurological Research Institute, Texas Children Hospital, Houston, TX 77030, USA

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http://dx.doi.org/10.1093/hmg/ddw059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007591PMC
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

Molybdenum cofactor deficiency.

Mol Genet Metab 2016 Jan 25;117(1):1-4. Epub 2015 Nov 25.

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

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http://dx.doi.org/10.1016/j.ymgme.2015.11.010DOI Listing
January 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

Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation".

Am J Med Genet A 2015 Oct 10;167A(10):2496. Epub 2015 Jun 10.

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

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http://dx.doi.org/10.1002/ajmg.a.37192DOI Listing
October 2015

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

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.

J Child Neurol 2016 Feb 9;31(2):215-9. Epub 2015 Jun 9.

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

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http://dx.doi.org/10.1177/0883073815587946DOI Listing
February 2016

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Am J Med Genet A 2015 Sep 5;167A(9):2162-7. Epub 2015 May 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37144DOI Listing
September 2015

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

Am J Med Genet A 2015 Apr 3;167A(4):914-8. Epub 2015 Mar 3.

Department of Medicine, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36948DOI Listing
April 2015

Adult liver disorders caused by inborn errors of metabolism: review and update.

Mol Genet Metab 2015 Jan 5;114(1):1-10. Epub 2014 Nov 5.

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

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http://dx.doi.org/10.1016/j.ymgme.2014.10.011DOI Listing
January 2015

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

Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in

Mol Genet Metab Rep 2014 ;1:61-65

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

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http://dx.doi.org/10.1016/j.ymgmr.2013.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185924PMC
January 2014

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

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

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management.

Mitochondrion 2013 Nov 21;13(6):681-7. Epub 2013 Sep 21.

Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2013.09.003DOI Listing
November 2013

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.

BMC Med Genet 2013 Aug 16;14:83. Epub 2013 Aug 16.

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

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http://dx.doi.org/10.1186/1471-2350-14-83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751849PMC
August 2013

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Hum Mutat 2013 Jun 2;34(6):882-93. Epub 2013 Apr 2.

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.22307DOI Listing
June 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

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

Am J Med Genet A 2012 Aug 18;158A(8):1891-6. Epub 2012 Jun 18.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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August 2012

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies.

Eur J Med Genet 2012 May 22;55(5):299-306. Epub 2012 Apr 22.

Department of Pediatrics, Cedars Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

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May 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

Nuclear gene defects in mitochondrial disorders.

Authors:
Fernando Scaglia

Methods Mol Biol 2012 ;837:17-34

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

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April 2012

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.

Am J Med Genet A 2011 Jul 2;155A(7):1574-80. Epub 2011 Jun 2.

Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.34029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121908PMC
July 2011

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Mol Genet Metab 2011 Aug 7;103(4):383-7. Epub 2011 May 7.

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

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August 2011

Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy.

Pediatr Blood Cancer 2011 Sep 25;57(3):454-60. Epub 2011 May 25.

Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer Center, Houston, TX, USA.

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http://dx.doi.org/10.1002/pbc.23162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3134130PMC
September 2011

Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients.

Am J Clin Nutr 2011 Jun 13;93(6):1248-54. Epub 2011 Apr 13.

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

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http://dx.doi.org/10.3945/ajcn.110.009043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3095500PMC
June 2011

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Mol Genet Metab 2011 Jul 11;103(3):262-7. Epub 2011 Mar 11.

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

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July 2011

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

Am J Hum Genet 2011 Apr;88(4):402-21

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071916PMC
April 2011