Research Topics
| Robert J HopkinSummaryAffiliation: Cincinnati Children's Hospital Medical Center Country: USA Publications
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Detail Information
Publications
Characterization of Fabry disease in 352 pediatric patients in the Fabry RegistryRobert J Hopkin
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
Pediatr Res 64:550-5. 2008..Thus, many pediatric Fabry patients report early symptoms, particularly pain, gastrointestinal symptoms, and impaired quality of life. Some children experience major complications during the pediatric years...- Acute progression of neuromuscular findings in infantile Pompe diseaseT Andrew Burrow
Division of Human Genetics, Department of Pediatrics, University of Cincinnati, and Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
Pediatr Neurol 42:455-8. 2010..Routine electromyography, nerve conduction studies, and cranial magnetic resonance imaging should be considered to delineate the presence of a neurodegenerative process in infantile-onset Pompe disease... - Evaluation of growth in patients with isolated cleft lip and/or cleft palateYuri A Zarate
Cincinnati Children s Hospital Medical Center, Division of Human Genetics, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA
Pediatrics 125:e543-9. 2010..The purpose of the study was to evaluate the growth of patients with isolated cleft lip (CL), with or without cleft palate (CP), or CP during the first few years of life... - Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomesKyla J Patek
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
Prenat Diagn 32:75-82. 2012..The purpose of this study was to describe the relationship between intracranial and extracranial anomalies and neurodevelopmental outcome for fetuses diagnosed with a posterior fossa anomaly (PFA) on fetal MRI... - Severe cervical scoliosis in the fetusCarlos E Prada
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
Prenat Diagn 31:1198-202. 2011..This study provides prenatal characteristics and postnatal outcomes of patients with severe cervical scoliosis... - Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1Carlos E Prada
Division of Human Genetics, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
J Pediatr 160:461-7. 2012..To characterize morbidity, mortality, and surgical outcomes in pediatric patients with symptomatic plexiform neurofibromas (PNFs)... - Severe micrognathia: indications for EXIT-to-AirwayLee M Morris
Fetal Care Center of Cincinnati, Divisions of Pediatric General, Thoracic, and Fetal Surgery, Otolaryngology, Genetics, and Maternal Fetal Medicine, Cincinnati Children s Hospital, University Hospital, Good Samaritan Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
Fetal Diagn Ther 26:162-6. 2009..We propose indications for EXIT-to-Airway in micrognathia to include a jaw index <5%, with indirect evidence of aerodigestive tract obstruction such as polyhydramnios, glossoptosis or an absent stomach bubble... - Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocolYuri A Zarate
Cincinnati Children s Hospital Medical Center, Ohio 45229, USA
Am J Med Genet A 149:1691-7. 2009..Very high AFP values did seem to be correlated with risk for identifiable liver lesions. Determination of the natural changes in AFP levels over time will allow more appropriate comparison... 
Enzyme reconstitution/replacement therapy for lysosomal storage diseasesT Andrew Burrow
Division of Human Genetics, Cincinnati Children s Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229 3039, USA
Curr Opin Pediatr 19:628-35. 2007....- Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic diseaseNatalie Jansen Street
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, OH 45229-3039, USA
Genet Med 8:346-53. 2006..CONCLUSION: Study participants reported clinically important effects on health-related quality of life. It is critical to develop management protocols for this population... - Recurrent pancreatitis in ornithine transcarbamylase deficiencyCarlos E Prada
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA
Mol Genet Metab 106:482-4. 2012..The pathogenesis of acute pancreatitis in this patient population requires further elucidation. Pancreatitis significantly affected dietary/metabolic management and increased frequency of hospitalizations... - Characterization of congenital anomalies in individuals with choanal atresiaT Andrew Burrow
Division of Human Genetics, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
Arch Otolaryngol Head Neck Surg 135:543-7. 2009..To review a tertiary care pediatric hospital's experience with choanal atresia and stenosis (CA/S) related to associated congenital anomalies (birth defects, including minor abnormalities) and genetic disorders... - A case of minimal change disease in a Fabry patientYuri A Zarate
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229, USA
Pediatr Nephrol 25:553-6. 2010..We recommend considering immunotherapy in addition to enzyme replacement therapy in those patients with confirmed Fabry disease and acute nephrotic syndrome with clinical and microscopic findings suggestive of minimal change disease... - Genetic causes of macroglossia: diagnostic approachCarlos E Prada
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Pediatrics 129:e431-7. 2012..Evaluate the contribution of standard diagnostic tests for macroglossia when clinical features are not suggestive of Beckwith-Wiedemann syndrome (BWS)... - Lethal presentation of neurofibromatosis and Noonan syndromeCarlos E Prada
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Ohio 45229, USA
Am J Med Genet A 155:1360-6. 2011..Our case suggests that a double genetic defect resulting in the hypersignaling of the Ras pathway may lead to complex cardiovascular abnormalities, cardiomyopathy, refractory arrhythmia, severe neurological phenotype, and early death... - Fabry's diseaseYuri A Zarate
Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA
Lancet 372:1427-35. 2008..Additional data are needed to document long-term treatment outcomes... - Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsyJeffrey R Tenney
Division of Neurology, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, and University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
J Child Neurol 26:223-7. 2011..The findings in this report suggest that patients who have deletions of 14-3-3ε and/or CRK should be monitored closely for the development of seizures... - Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry diseaseRobert J Hopkin
Division and Program in Human Genetics, Cincinnati Children's Research Foundation, Cincinnati, Ohio 45229-3039, USA
Genet Med 5:144-53. 2003..In addition, the need for additional long-term data is emphasized because this is not attainable in short-term trials for a chronic disease... - Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformationJaya K George-Abraham
Division of Human Genetics, Department of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
Am J Med Genet A 158:1971-6. 2012..Finally, we believe cardiac defects with this genetic syndrome are a poor prognostic finding associated with high mortality... - A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literatureYuri A Zarate
Department of Pediatrics, Division of Human Genetics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
Am J Med Genet A 143:265-70. 2007..Differences between conventional cytogenetic techniques and newer molecular genetic studies are expected. These newer techniques will help refine prognosis and counseling for families in the future... 
Prenatal MRI findings of fetuses with congenital high airway obstruction sequenceCarolina V A Guimaraes
Department of Radiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
Korean J Radiol 10:129-34. 2009..To define the MRI findings of congenital high airway obstruction sequence (CHAOS) in a series of fetuses...- Phenotypic and microscopic description of a new case of Ermine phenotypeYuri A Zarate
Cincinnati Children s Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
Am J Med Genet A 149:1253-6. 2009..Therefore, this should be included as an independent condition in the differential diagnosis. Additional phenotypic and pathologic descriptions are needed to better define this condition clinically, pathologically, and genetically... - Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognitionJamie Sutherell
Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
Congenit Heart Dis 2:342-6. 2007..Because of potential new therapies, it is increasingly important to recognize neonatal MFS in utero as well as shortly after birth to initiate the appropriate diagnostic work-up and management... - Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case reportAlan P Kenny
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
Pediatr Dev Pathol 12:417-20. 2009..We suggest that hepatobiliary function be evaluated in patients with TNDM to determine the prevalence and course of cholestasis of the disease... - Enzyme therapy for lysosomal storage disease: principles, practice, and prospectsGregory A Grabowski
The Division and Program in Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, Ohio, 45229 3039, USA
Annu Rev Genomics Hum Genet 4:403-36. 2003..The principles, progress, and practice in these diseases provide prototypes for expansion of enzyme therapy to a growing set of these diseases...