Professor in Pediatrics, Northwestern University Medical School
Medical Genetics
Dr. Barbara K. Burton, MD
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Barbara K. Burton works in the field of Medical Genetics. She studied medicine at Northwestern University Feinberg School of Medicine. Northwestern University Feinberg School of Medicine is ranked 19/29 in Research/PrimaryCare. She received 2 awards: "Top MD" and "Super Doctor". Dr. Barbara K. Burton is a published doctor. She has 94 publications published. The most current publication "Inborn errors of metabolism in infancy: a guide to diagnosis."
Publications
- Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.
- Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.
- A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-re...
- Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.
- Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insens...
- Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentr...
- Phenylketonuria Scientific Review Conference: State of the science and future research needs.
- Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry.
- Liver transplantation for pediatric metabolic disease.
- Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
- Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
- Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome).
- High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system.
- CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy.
- Psychiatric symptoms in adults with phenylketonuria.
- A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics.
- Survey of health status and complications among propionic acidemia patients.
- Newborn screening for Pompe disease: An update, 2011.
- Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study.
- Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.
- Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
- Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU).
- Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU).
- Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses.
- Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
- Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
- A letter from the SIMD president.
- Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
- Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (gal...
- Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
- Metabolic cardiomyopathy and mitochondrial disorders in the pediatric intensive care unit.
- An 8-year-old girl with short stature. Noonam syndrome.
- A 12 year old with scoliosis. Marfan syndrome.
- A 30 month old with speech delay. Fragile X syndrome.
- Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
- Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
- Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome.
- A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
- Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1.
- Present status of intrauterine diagnosis of genetic defects.
- Schilder''s disease: abnormal cholesterol retention and accumulation in cultivated fibroblasts.
- N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.
- First report of management and outcome of pregnancies associated with hereditary orotic aciduria.
- Altered newborn gender distribution in patients with low mid-trimester maternal serum human chorionic gonadotropin (MShCG).
- Pregnancy outcome in women with low midtrimester maternal serum unconjugated estriol.
- Chronic relapsing inflammatory optic neuropathy (CRION).
- A prospective trial of prenatal screening for Down syndrome by means of maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol.
- Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.
- Proficiency testing for biochemical genetics laboratories: the first 10 rounds of testing.
- Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses.
- Congenital scalp defects with distal limb anomalies: report of a family.
- Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.
- Cerebellar hemorrhage complicating isovaleric acidemia: a case report.
- Nager acrofacial dysostosis: report of a case.
- Primary type I hyperlipoproteinemia with normal lipoprotein lipase activity.
- Clinical diagnosis of the inborn errors of metabolism in the neonatal period.
- A new skeletal dysplasia: clinical, radiologic, and pathologic findings.
- Inborn errors of metabolism: the clinical diagnosis in early infancy.
- Outcome in infants born to mothers with unexplained elevations of maternal serum alpha-fetoprotein.
- Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
- Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.
- Urea cycle disorders.
- Familial leg ulcers.
- Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases.
- Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.
- Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
- Dominant inheritance of microcephaly with short stature.
- Sudden death associated with biotinidase deficiency.
- Maternal serum alpha-fetoprotein screening.
- Mosaic trisomy 7 in a patient with pigmentary abnormalities.
- Spectrum of limb disruption defects associated with chorionic villus sampling.
- Malignant ventricular dysrhythmias in a patient with isovaleric acidemia receiving general and local anesthesia for suction lipectomy.
- An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS).
- Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.
- Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene.
- The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
- Effect of long-term beta-blockade on aortic root compliance in patients with Marfan syndrome.
- Outcomes beyond phenylalanine: an international perspective.
- Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.
- Inborn errors of metabolism in infancy: a guide to diagnosis.
- A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
- Phenylketonuria in adulthood: a collaborative study.
- Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.
- A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
- The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II,...
- Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
- An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
- Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria.
- Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
- Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.
- Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.
- Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a...
- Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controll...
Schools
Northwestern University The Feinberg School Of Medicine
Children39s Memorial Hospital
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Top MD
- Super Doctor
Education
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McGaw Medical Center of Northwestern University -
Northwestern University Feinberg School of Medicine
Hospital
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Lurie Children's Hospital of Chicago -
Northwestern Memorial Hospital -
Ann & Robert H. Lurie Children?
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