Associate Professor, Molecular and Human Genetics, Baylor College of Medicine
Medical Genetics
Dr. Fernando Scaglia, MD
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Fernando Scaglia is an expert in the field of Medical Genetics. Fernando Scaglia, MD is a published doctor. He published 19 publications, including: 'Mitochondrial cytopathies.'
Publications
- Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
- Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
- Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
- Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.
- Disorders of carnitine biosynthesis and transport.
- Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
- Adult liver disorders caused by inborn errors of metabolism: Review and update.
- Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 g...
- Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome.
- The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome.
- Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges.
- Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
- Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
- Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects.
- Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
- Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW.
- Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.
- Mitochondrial cytopathies.
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Emory University -
Universidad Nacional de La Plata Faculty of Medicine
Hospital
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Texas Children's Hospital -
Baylor St. Luke's Medical Center
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