Research Topics
Species | F ScagliaSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Publications
The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment optionsFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
CNS Drugs 20:443-64. 2006..Current approaches to the treatment of the MELAS syndrome are based on the use of antioxidants, respiratory chain substrates and cofactors in the form of vitamins; however, no consistent benefits have been observed with these treatments...- Minimal change nephrotic syndrome: a possible complication of ehrlichiosisF Scaglia
Division of Rheumatology and Immunology, Department of Pediatrics, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322, USA
Pediatr Nephrol 13:600-1. 1999..In the appropriate clinical setting, Ehrlichiae should be considered in the etiological assessment of patients with minimal change disease... - New insights in nutritional management and amino acid supplementation in urea cycle disordersFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 100:S72-6. 2010.... - Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiencyFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Clinical Care Center Suite 1560, 6621 Fannin Street, Houston, TX 77030, USA
Am J Med Genet C Semin Med Genet 142:113-20. 2006..This review article summarizes the clinical characterization of this disorder; as well as its biochemical, enzymatic, and molecular features. Treatment, prenatal diagnosis and diagnosis through newborn screening are also discussed... - Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial diseaseFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Pediatrics 114:925-31. 2004..The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features... - Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosisFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA
Am J Med Genet A 123:172-8. 2003.... - The role of mitochondrial dysfunction in psychiatric diseaseFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, 6621 Fannin, Houston, TX 77030, USA
Dev Disabil Res Rev 16:136-43. 2010.... - An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiencyFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Pediatrics 109:150-2. 2002..In this patient, the use of in vivo and in vitro measures of urea cycle activity in conjunction with a consideration of her clinical history and medical-social situation led to a decision for OLT... - Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduriaF Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
J Child Neurol 16:136-8. 2001..The observation of 3-methylglutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion... - Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolismFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
BMC Pediatr 2:12. 2002..These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period... - Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairmentS C Sreenath Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
J Med Genet 46:825-33. 2009..The phenotypic consequences of YWHAE deletion without deletion of PAFAH1B1 have not been studied systematically... - Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiencySeema R Lalani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Arch Neurol 62:317-20. 2005..Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures... - MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutationK Szigeti
Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA
J Med Genet 41:125-9. 2004..It is important to examine the most significantly affected tissue and to measure TP activity and plasma thymidine in order to arrive at an accurate diagnosis in this condition... - Current molecular diagnostic algorithm for mitochondrial disordersLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 100:111-7. 2010..The ever-expanding list of known disease-causing genes will undoubtedly improve diagnostic accuracy and genetic counseling... - Identification of proximal 1p36 deletions using array-CGH: a possible new syndromeS H L Kang
Department of Molecular and Human Genetics, Baylor College of Medicine, Clinical Care Center, 6701 Fannin Street, Houston, TX 77030, USA
Clin Genet 72:329-38. 2007.... - Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvementK Inoue
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Ann Neurol 50:747-54. 2001..These findings indicate plasticity of oligodendrocytes in the formation of central nervous system myelin and suggest a potential role for stem cell transplantation therapies... - Epimerase-deficiency galactosemia is not a binary conditionKimberly K Openo
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Am J Hum Genet 78:89-102. 2006..Long-term follow-up studies of these and other patients will be required to elucidate the clinical significance of these biochemical abnormalities and the potential impact of dietary intervention on outcome... - Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolismFernando Scaglia
Department of Molecular and Human Genetics, Children s Nutritional Research Center, Baylor College of Medicine, Houston, TX 77030, USA
J Nutr 134:2775S-2782S; discussion 2796S-2797S. 2004.... - Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiencyDavid P Dimmock
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Liver Transpl 14:1480-5. 2008..Conversely, in the absence of these neurological features, liver transplantation may be considered a potential treatment... - Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletionsLee Jun C Wong
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Clin Chem 54:1141-8. 2008..Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal copy number... - Human mitochondrial transfer RNAs: role of pathogenic mutation in diseaseFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
Muscle Nerve 37:150-71. 2008..We also provide readers with an overview of a large variety of mechanisms by which mutations may affect the mitochondrial translation machinery and cause disease... - Molecular bases of hearing loss in multi-systemic mitochondrial cytopathyFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genet Med 8:641-52. 2006..CONCLUSION: This study reveals an expanding spectrum of mtDNA abnormalities associated with hearing loss. No correlation was found between the degrees of hearing loss and the severity of neurological manifestations... - Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mutat 29:330-1. 2008.... - TyrosinemiaRussell Lam
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
Liver Transpl 8:500-1. 2002 - Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiencyFang Yuan Li
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Hum Mutat 31:E1632-51. 2010..680G>A (p.R227H) mutation. Thus, copy number abnormalities at the OCTN2 locus should be considered if by sequencing, an apparently homozygous mutation or only one mutant allele is identified... - Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patientsFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 635E, Houston, TX 77030, USA
Mol Genet Metab 81:S79-85. 2004..These findings suggest that better titration of protein restriction could be achieved with branched chain amino acid supplementation in patients with UCDs who are on alternative route therapy... - Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]Svetlana A Yatsenko
Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Clinical Care Center, 6621 Fannin, Houston, TX 77030, USA
Am J Med Genet A 128:72-7. 2004..We suggest that the absence of many of the characteristic features for trisomy 1q in our patient, may reflect a mosaic pattern of inactivation of the translocated autosomal segment on the derivative X chromosome... - Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspectsAyman W El-Hattab
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genet Med 12:19-24. 2010..We report five families in which low free carnitine levels in the infants' newborn screening have led to the diagnosis of maternal systemic primary carnitine deficiency... - Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defectsFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital [corrected] Houston, TX 77030, USA
AJNR Am J Neuroradiol 26:1675-80. 2005..The diagnostic workup in patients with neuromuscular features whose brain MR imaging exhibits cerebellar volume loss should include the evaluation for mitochondrial encephalomyopathies... - Ornithine transcarbamylase deficiency: a possible risk factor for thrombosisLakshmi Venkateswaran
Department of Hematology Oncology, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030 2399, USA
Pediatr Blood Cancer 53:100-2. 2009..Careful normalization of plasma arginine and citrulline levels and increased surveillance for thrombotic complications should be considered in patients with OTC deficiency... - Citrin deficiency, a perplexing global disorderDavid Dimmock
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
Mol Genet Metab 96:44-9. 2009..The finding of citrin mutations in patients of Arabic, Pakistani, French Canadian and Northern European origins supports the concept that citrin deficiency is a panethnic disease... - Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1Motoaki Sano
Center for Cardiovascular Development, Baylor College of Medicine, Houston, TX 77030, USA
Cell Metab 5:129-42. 2007..PGC-1 bound to both MAT1 and Cdk7 in coprecipitation assays. Thus, we demonstrate a requirement for MAT1 in the operation of PGC-1 coactivators that control cell metabolism... - Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosisNicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
J Child Neurol 23:73-8. 2008..Histologically, no significant alterations were found in axons, but there was evidence of redundant and inappropriately folded myelin, which is a feature attributed to disturbed axon-glial interactions... - Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriersFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Clin Nutr 78:749-55. 2003....