B. Burton

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Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

S. Robertson, M. Simpson, R. Trembath, 2011, Nature Genetics.

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

P. Kaplan, D. Stockton, B. Burton, 2017, The Journal of pediatrics.

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15‐Month Experience

J. Charrow, B. Burton, D. Waggoner, 2017, The Journal of pediatrics.

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

J. Vockley, B. Burton, N. Longo, 2014, The Lancet.

Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience

J. Charrow, B. Burton, L. Pena, 2012, Genetics in Medicine.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study.

P. Fernhoff, B. Burton, A. Chakrapani, 2011, Molecular genetics and metabolism.

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

S. Ellard, K. Muthusamy, R. Møller, 2022, medRxiv.

A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois

J. Charrow, B. Burton, D. Waggoner, 2012 .

A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials

B. Burton, N. Longo, A. Ilan, 2021, Molecular genetics and metabolism reports.

Clinical diagnosis of the inborn errors of metabolism in the neonatal period.

B. Burton, H. Nadler, 1978, Pediatrics.

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

P. Byers, D. Russell, B. Burton, 2011, Human molecular genetics.

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

B. Burton, R. Giugliani, J. Muenzer, 2021, Orphanet Journal of Rare Diseases.

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

M. Gelb, J. Kurtzberg, B. Burton, 2018, Orphanet Journal of Rare Diseases.

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay

S. Scherer, C. Marshall, B. Burton, 2008, American journal of medical genetics. Part A.

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS).

B. Burton, D. Whiteman, 2011, Molecular genetics and metabolism.

The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

S. Cederbaum, B. Burton, C. Harding, 2007, Journal of Inherited Metabolic Disease.

An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS)

B. Burton, B. Angle, C. Schulz, 1995, Prenatal diagnosis.

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

B. Burton, R. Giugliani, S. Jones, 2017, Orphanet Journal of Rare Diseases.

CDKL5 and ARX mutations in males with early-onset epilepsy.

W. Chung, E. Wirrell, Soma Das, 2013, Pediatric neurology.

Reply to a Letter to the Editor Regarding the Original Article, Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr. 2015;61(6): 619-625.

B. Burton, 2016, Journal of pediatric gastroenterology and nutrition.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2017, American journal of human genetics.

Effect of long-term β-blockade on aortic root compliance in patients with Marfan syndrome

P. Denes, B. Burton, E. Silber, 1999 .

Progression of liver disease in children and adults with lysosomal acid lipase deficiency

B. Burton, N. Silliman, S. Marulkar, 2017, Current medical research and opinion.

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.

S. Waisbren, S. Cederbaum, B. Burton, 2018, Molecular genetics and metabolism.

Unique medical issues in adult patients with mucopolysaccharidoses.

John J. Mitchell, D. Rapoport, B. Burton, 2016, European journal of internal medicine.

Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1

J. Rosenfeld, E. Roeder, Ankita Patel, 2014, PloS one.

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

S. Waisbren, B. Burton, N. Longo, 2014, Genetics in Medicine.

Effect of long-term beta-blockade on aortic root compliance in patients with Marfan syndrome.

P. Denes, B. Burton, E. Silber, 1999, American heart journal.

Proficiency testing for biochemical genetics laboratories: the first 10 rounds of testing.

M. A. Brewster, B. Burton, L. Elsas, 1990, American journal of human genetics.

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

S. Waisbren, B. Burton, N. Longo, 2021, Molecular genetics and metabolism.

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

F. Muntoni, B. Burton, A. Engel, 2008, Annals of neurology.

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

S. Edland, J. Vockley, B. Burton, 2004, American journal of human genetics.

Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States.

B. Burton, A. Ellis, Dan Gallo, 2021, Molecular genetics and metabolism.

Metabolic cardiomyopathy and mitochondrial disorders in the pediatric intensive care unit.

B. Burton, J. Kane, S. Tsao, 2007, The Journal of pediatrics.

Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.

S. Brusilow, B. Burton, L. Levitsky, 1984, The New England journal of medicine.

Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study

J. Vockley, B. Burton, N. Longo, 2020, Journal of inherited metabolic disease.

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

John J. Mitchell, Robert A. Matousek, B. Burton, 2017, Molecular genetics and metabolism.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

J. Ganesh, A. Vanderver, N. Brunetti‐Pierri, 2008, Human mutation.

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.

J. Vockley, B. Burton, N. Longo, 2009, The Journal of pediatrics.

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

M. Seashore, B. Burton, J. Wolff, 2008, American journal of medical genetics. Part A.

Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU).

B. Burton, H. LaDuca, R. Katz, 2010, Molecular genetics and metabolism.

Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU).

B. Burton, Lauren Leviton, 2010, Molecular genetics and metabolism.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.

J. Mahoney, J. Vockley, B. Burton, 2014, Molecular genetics and metabolism.

Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.

John J. Mitchell, A. Shaywitz, M. Tarnopolsky, 2018, JIMD reports.

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.

Yow-Ming C Wang, Anne R. Pariser, J. Bluestone, 2016, Molecular Genetics and Metabolism.

Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.

B. Burton, W. Lorentz, A. Trillo, 1984, The Journal of pediatrics.

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study

John J. Mitchell, A. Shaywitz, M. Tarnopolsky, 2015, American journal of medical genetics. Part A.

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

John J. Mitchell, P. Slasor, B. Burton, 2015, Molecular genetics and metabolism.

Urea cycle disorders.

B. Burton, 2000, Clinics in liver disease.

Primary type I hyperlipoproteinemia with normal lipoprotein lipase activity.

B. Burton, H. Nadler, 1977, The Journal of pediatrics.

The Genetic Landscape and Epidemiology of Phenylketonuria.

V. Stoppioni, J. Vockley, B. Burton, 2020, American journal of human genetics.

Present status of intrauterine diagnosis of genetic defects.

B. Burton, H. Nadler, A. Gerbie, 1974, American journal of obstetrics and gynecology.

N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers

M. Tuchman, B. Burton, I. Nissim, 2008, Pediatric Research.

Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria

B. Schweighardt, K. Larimore, B. Burton, 2021, Clinical and translational science.

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial.

J. Vockley, B. Burton, N. Longo, 2018, Molecular genetics and metabolism.

Newborn screening for Pompe disease: An update, 2011

B. Burton, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

B. Burton, R. Giugliani, O. Bodamer, 2011, European Journal of Pediatrics.

Cholesterol Ester and Triglyceride Metabolism in Intact Fibroblasts from Patients with Wolman's Disease and Cholesterol Ester Storage Disease

B. Burton, W. T. Remy, L. Rayman, 1984, Pediatric Research.

Long-Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency

B. Burton, I. Barić, S. Marulkar, 2022, Journal of pediatric gastroenterology and nutrition.

SEBELIPASE ALFA IN CHILDREN AND ADULTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY: FINAL RESULTS OF THE ARISE STUDY.

B. Burton, M. Balwani, K. Furuya, 2021, Journal of hepatology.

Purification and properties of human placental acid lipase.

B. Burton, H. Mueller, 1980, Biochimica et biophysica acta.

Lysosomal acid lipase in cultivated fibroblasts: characterization of enzyme activity in normal and enzymatically deficient cell lines.

B. Burton, H. Mueller, D. Emery, 1980, Clinica chimica acta; international journal of clinical chemistry.

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.

S. Cederbaum, B. Burton, H. Levy, 2007, Molecular genetics and metabolism.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

First report of management and outcome of pregnancies associated with hereditary orotic aciduria.

S. Brusilow, B. Burton, L. R. Livingstone, 1991, American journal of medical genetics.

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

J. Charrow, B. Burton, G. Hoganson, 2020, International journal of neonatal screening.

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

J. Vockley, B. Burton, C. Cameron, 2016, Molecular genetics and metabolism.

Liver transplantation for pediatric metabolic disease.

D. Morton, J. Vockley, B. Burton, 2014, Molecular genetics and metabolism.

Pregnancy in patients with mucopolysaccharidosis: a case series

John J. Mitchell, B. Burton, F. Stewart, 2016, Molecular genetics and metabolism reports.

Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

John J. Mitchell, B. Burton, F. Stewart, 2016 .

Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome).

C. Dodsworth, B. Burton, 2014, Molecular genetics and metabolism.

Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.

B. Burton, S. P. Reed, 1981, American journal of human genetics.

Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses

B. Burton, Joshua J. Baker, E. Vucko, 2022, Molecular genetics and metabolism reports.

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.

K. Larimore, J. Vockley, B. Burton, 2020, Molecular genetics and metabolism.

Survey of health status and complications among propionic acidemia patients

B. Burton, L. Pena, 2012, American journal of medical genetics. Part A.

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.

S. Christ, M. Walterfang, J. Vockley, 2022, Molecular genetics and metabolism.

Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome

B. Burton, Marilyn C. Jones, J. Lamberti, 1997, Human mutation.

Lactosyl ceramidosis: deficient activity of neutral beta-galactosidase in liver and cultivated fibroblasts?

B. Burton, H. Nadler, Y. Ben-yoseph, 1978, Clinica chimica acta; international journal of clinical chemistry.

Spectrum of limb disruption defects associated with chorionic villus sampling.

B. Burton, C. Schulz, L. Burd, 1993, Pediatrics.

Ultrasonography in patients with low maternal serum alpha‐fetoprotein.

B. Burton, L. H. Nelson, S. Sowers, 1987, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

CONGENITAL NEPHROSIS AS A CAUSE OF ELEVATED ALPHAFETOPROTEIN

B. Burton, S. Albright, J. Seeds, 1990, Obstetrics and gynecology.

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.

B. Burton, R. Hickey, L. Hitchins, 2020, International journal of neonatal screening.

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

J. Charrow, B. Burton, G. Hoganson, 2020, International journal of neonatal screening.

Outcome of Pregnancy in Patients With Unexplained Elevated Or Low Levels of Maternal Serum Alpha-Fetoprotein

B. Burton, 1988, Obstetrics and gynecology.

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

B. Burton, V. Jego, Simon A. Jones, 2017, Journal of Inherited Metabolic Disease.

A multi-national, randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of BMN 110 treatment for mucopolysaccharidosis IVA (Morquio syndrome type A)

T. Fleming, B. Burton, C. Hendriksz, 2013 .

Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome

D. Sillence, B. Burton, J. Abdenur, 2005, Genetics in Medicine.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

M. Spence, S. Bale, A. Paulussen, 2012, Journal of Medical Genetics.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Melissa L McPheeters, Mary Lou Lindegren, Anita MacDonald, 2014, Molecular genetics and metabolism.

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

John J. Mitchell, Jerry Vockley, Barbara K Burton, 2013, Genetics in Medicine.

Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.

B K Burton, H M Cann, H. Cann, 1982, The New England journal of medicine.

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

S. Cederbaum, B. Burton, N. Longo, 2008, Molecular genetics and metabolism.

Inborn errors of metabolism in infancy-A guide to diagnosis

B K Burton, B. Burton, 1998, Pediatrics.

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

J. Vockley, B. Burton, N. Longo, 2018, Genetics in Medicine.

Sudden death associated with biotinidase deficiency.

B. Burton, B. Wolf, E. Roach, 1987, Pediatrics.

Mosaic trisomy 7 in a patient with pigmentary abnormalities.

B. Burton, M. Miller, A. Newlin, 1999, American journal of medical genetics.

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

A. Vanderver, Nan Wang, B. Burton, 2014, Molecular genetics and metabolism reports.

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system.

C. Dodsworth, B. Burton, Katherine H Kim, 2013, Molecular genetics and metabolism.

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Laurie D. Smith, B. Burton, R. Giugliani, 2014, JIMD reports.

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.

B. Burton, K. White, R. Giugliani, 2012, Molecular genetics and metabolism.

Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls

B. Burton, R. Giugliani, 2012, European Journal of Pediatrics.

Mannosidosis: separation and characterization of two acid alpha-mannosidase forms in mutant fibroblasts.

B. Burton, H. Nadler, 1978, Enzyme.

Elevated maternal serum alpha-fetoprotein levels and oligohydramnios: poor prognosis for pregnancy outcome.

B. Burton, L. H. Nelson, S. N. Dyer, 1987, American Journal of Obstetrics and Gynecology.

Outcomes in patients with unusually high maternal serum α-fetoprotein levels

B. Burton, J. Bensen, Lewis H. Nelson, 1987 .

Brief clinical report: prune belly syndrome: observations supporting the hypothesis of abdominal overdistention.

B. Burton, R. Dillard, 1984, American journal of medical genetics.

45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases.

B. Burton, S. Kahler, M. Wheeler, 1991, American journal of medical genetics.

Biochemical and Biologic Problems and Pitfalls in the Prenatal Diagnosis of Inborn Errors of Metabolism

B. Burton, H. Nadler, 1986 .

Biochemical and Biological Problems and Pitfalls of Cell Culture for Prenatal Diagnosis

B. Burton, H. Nadler, A. Gerbie, 1979 .

Altered newborn gender distribution in patients with low mid-trimester maternal serum human chorionic gonadotropin (MShCG).

B. Burton, W. Meyer, J. Santolaya-Forgas, 1997, The Journal of maternal-fetal medicine.

False‐Positive Acetylcholinesterase With Early Amniocentesis

B. Burton, Lewis H. Nelson, 1989, Obstetrics and gynecology.

Outcome in Infants Born to Mothers With Unexplained Elevations of Maternal Serum α-Fetoprotein

B. Burton, R. Dillard, 1986, Pediatrics.

Maternal serum alpha-fetoprotein screening in North Carolina: experience with more than twelve thousand pregnancies.

B. Burton, L. H. Nelson, S. Sowers, 1983, American journal of obstetrics and gynecology.

Positive amniotic fluid acetylcholinesterase: distinguishing between open spina bifida and ventral wall defects.

B. Burton, 1986, American journal of obstetrics and gynecology.

Psychiatric symptoms in adults with phenylketonuria.

H. Coon, B. Burton, N. Longo, 2013, Molecular genetics and metabolism.

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.

B. Burton, M. Inbar‐Feigenberg, J. Muenzer, 2022, Molecular genetics and metabolism.

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.

B. Burton, M. Inbar‐Feigenberg, J. Muenzer, 2022, Molecular genetics and metabolism.

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

T. Fleming, P. Slasor, B. Burton, 2014, Journal of Inherited Metabolic Disease.

Successful Management of Difficult Infusion-Associated Reactions in a Young Patient With Mucopolysaccharidosis Type VI Receiving Recombinant Human Arylsulfatase B (Galsulfase [Naglazyme])

B. Burton, C. Decker, Katherine H. Kim, 2008, Pediatrics.

Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.

B. Burton, W. T. Remy, S. P. Reed, 1981, The Journal of pediatrics.

Hyperpipecolic observations in acidemia: Clinical and biochemical two male siblings

B. Burton, W. T. Remy, S. P. Reed, 1981 .

Pathologic Alterations in the Brain and Liver in Hyperpipecolic Acidemia

K. Geisinger, B. Burton, V. Challa, 1983, Journal of neuropathology and experimental neurology.

1105 HYPERPIPECOLIC ACIDEMIA (HPA): CLINICAL, BIOCHEMICAL AND PATHOLOGIC FEATURES

B. Burton, 1981, Pediatric Research.

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

B. Burton, M. Yudkoff, Aneal Khan, 2016, Molecular genetics and metabolism.

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

K. F. Fajardo, J. Snyder, D. Kerr, 2014, Molecular genetics and metabolism.

Inborn errors of metabolism: the clinical diagnosis in early infancy.

B. Burton, 1987, Pediatrics.

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.

M. Gelb, J. Kurtzberg, B. Burton, 2021, Molecular genetics and metabolism.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

R. Hochstenbach, Q. Waisfisz, R. Person, 2019, American journal of medical genetics. Part A.

An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Uta Francke, Barbara K Burton, U. Francke, 2006, Journal of Medical Genetics.

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

G. Enns, B. Burton, J. Kane, 2015, The New England journal of medicine.

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.

L. Shaffer, A. Bassuk, J. Coppinger, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene

L. Shaffer, B. Ballif, B. Bejjani, 2006, American journal of medical genetics. Part A.

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

B. Burton, M. Cunningham, R. Ellenbogen, 2007, American journal of medical genetics. Part A.

Congenital scalp defects with distal limb anomalies: Report of a family

B. Burton, H. Nadler, Lynn Hauser, 1976, Journal of medical genetics.

Maternal serum alpha-fetoprotein screening: the effect of participation on anxiety and attitude toward pregnancy in women with normal results.

B. Burton, R. Dillard, E. N. Clark, 1985, American journal of obstetrics and gynecology.

The psychological impact of false positive elevations of maternal serum α-fetoprotein

B. Burton, R. Dillard, E. N. Clark, 1985 .

The psychological impact of false positive elevations of maternal serum alpha-fetoprotein.

B. Burton, R. Dillard, E. N. Clark, 1985, American journal of obstetrics and gynecology.

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

B. Burton, K. White, P. Tanpaiboon, 2014, Skeletal Radiology.

Nonketotic hyperglycinemia in a patient with the 9p- syndrome.

B. Burton, J. Bensen, M. Pettenati, 1989, American journal of medical genetics.

Malignant ventricular dysrhythmias in a patient with isovaleric acidemia receiving general and local anesthesia for suction lipectomy.

B. Burton, G. Weinberg, C. Laurito, 1997, Journal of clinical anesthesia.

Cerebellar hemorrhage complicating isovaleric acidemia

B. Burton, V. Challa, A. Fischer, 1981, Neurology.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2016, American journal of human genetics.

Maternal serum alpha-fetoprotein screening.

B. Burton, 1989, Journal of the Tennessee Medical Association.

Recurrence risks for congenital hydrocephalus

B. Burton, 1979, Clinical genetics.

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

S. Cederbaum, B. Burton, N. Longo, 2009, Molecular genetics and metabolism.

ANTENATAL DIAGNOSIS OF METABOLIC DISORDERS

B. Burton, 1981, Clinics in obstetrics and gynaecology.

Congenital Malformations: Evidence-Based Evaluation and Management

B. Burton, Praveen Kumar, 2007 .

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

M. Gelb, B. Burton, K. Basheeruddin, 2022, International journal of neonatal screening.

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

R. Weksberg, J. Opitz, J. Allanson, 1995, Nature Genetics.

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

B. Burton, R. Steiner, R. Giugliani, 2010, Genetics in Medicine.

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

John J. Mitchell, P. Slasor, B. Burton, 2013, Molecular genetics and metabolism.

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

B. Burton, P. Sanchez-Lara, M. Deardorff, 2012, American journal of medical genetics. Part A.

Long-term benefit of sebelipase alfa over 76 weeks in children and adults with lysosomal acid lipase deficiency (LALD) “ARISE”

B. Burton, K. Furuya, S. Marulkar, 2017 .

Clinical Features of Lysosomal Acid Lipase Deficiency

G. Enns, B. Burton, S. Eckert, 2015, Journal of pediatric gastroenterology and nutrition.

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.

J. Vockley, B. Burton, N. Longo, 2017, Molecular genetics and metabolism.

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

John J. Mitchell, Robert A. Matousek, B. Burton, 2016, Journal of Inherited Metabolic Disease.

A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome

Nan Wang, B. Burton, C. Hendriksz, 2015 .

Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA.

B. Burton, M. Pasquali, R. Lawrence, 2020, Glycobiology.

Empiric recurrence risks for congenital hydrocephalus.

B. Burton, 1979, Birth defects original article series.

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

B. Burton, G. Węgrzyn, A. Tylki-Szymańska, 2013, Acta paediatrica.

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.

John J. Mitchell, Robert A. Matousek, A. Shaywitz, 2016, Molecular genetics and metabolism.

Outcomes beyond phenylalanine: an international perspective.

B. Burton, A. Macdonald, F. Feillet, 2010, Molecular genetics and metabolism.

Schilder's Disease: Abnormal Cholesterol Retention and Accumulation in Cultivated Fibroblasts

B. Burton, H. Nadler, 1974, Pediatric Research.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

G. Carvill, I. Scheffer, H. Mefford, 2022, Neurology.

Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.

B. Burton, M. Pettenati, R. Weaver, 1989, American journal of medical genetics.

First-in-human in vivo genome editing via AAV-zinc finger nucleases for mucopolysaccharidosis I/II and hemophilia B.

B. Burton, C. Kessler, D. Rouy, 2022, Molecular therapy : the journal of the American Society of Gene Therapy.

Limb Anomalies Associated With Chorionic Villus Sampling

B. Burton, C. Schulz, L. Burd, 1992, Obstetrics and gynecology.

Cockayne syndrome with early onset of manifestations.

B. Burton, D. B. Moyer, P. Marquis, 1982, American journal of medical genetics.

Oromandibular-limb hypogenesis syndrome following chorionic villus sampling.

B. Burton, B. Gruber, 1994, International journal of pediatric otorhinolaryngology.

Open Spina Bifida: Does Cesarean Section Delivery Improve Prognosis?

B. Burton, J. Bensen, R. Dillard, 1988, Obstetrics and gynecology.

Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

J. Charrow, Ayesha Ahmad, J. Vockley, 2007, Genetics in Medicine.

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

W. Hwu, B. Burton, P. Kishnani, 2017, Pediatrics.

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks

John J. Mitchell, A. Shaywitz, V. Sutton, 2017 .

A new skeletal dysplasia: clinical, radiologic, and pathologic findings.

D. Rimoin, B. Burton, R. Lachman, 1986, The Journal of pediatrics.

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience

B. Burton, V. Shively, K. Basheeruddin, 2022, International journal of neonatal screening.

Safety findings from 3 trials of treatment with sebelipase alfa in children and adults with lysosomal acid lipase deficiency

B. Burton, J. Kane, A. Tylki-Szymańska, 2016 .

Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A Review.

B. Burton, Joshua Baker, 2021, TouchREVIEWS in endocrinology.

B. Burton, R. Reish, S. Sowers, 1983, American journal of obstetrics and gynecology.

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

B. Burton, R. Giugliani, N. Mendelsohn, 2014, Journal of Inherited Metabolic Disease.

A prospective trial of prenatal screening for Down syndrome by means of maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol.

G. Prins, B. Burton, M. Verp, 1993, American journal of obstetrics and gynecology.

Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases.

J. Opitz, B. Burton, S. Holgado, 1994, American journal of medical genetics.

Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene

A. Bassuk, B. Burton, D. Burrowes, 2003, Neurology.

Executive function in phenylketonuria (PKU): Insights from the Behavior Rating Inventory of Executive Function (BRIEF) and a large sample of individuals with PKU.

S. Christ, S. Waisbren, B. Burton, 2020, Neuropsychology.

Outcomes in patients with unusually high maternal serum alpha-fetoprotein levels.

B. Burton, J. Bensen, L. H. Nelson, 1987, American journal of obstetrics and gynecology.

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.

S. Stahl, S. Waisbren, B. Burton, 2015, Molecular genetics and metabolism.

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study

K. Larimore, J. Vockley, B. Burton, 2018, Orphanet Journal of Rare Diseases.

Nager acrofacial dysostosis: report of a case.

B. Burton, H. Nadler, 1977, Jornal de Pediatria.

Phenylketonuria and BH4 deficiencies

S. Waisbren, B. Burton, N. Blau, 2010 .

Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.

B. Burton, B. Angle, 2008, Molecular genetics and metabolism.

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.

B. Burton, J. Malone, D. Grange, 2011, The Journal of pediatrics.

A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics.

H. Coon, A. Hamosh, B. Burton, 2013, Molecular genetics and metabolism.

CHAMPIONS: A phase 1/2 clinical trial with dose escalation of SB-913 ZFN-mediated in vivo human genome editing for treatment of MPS II (Hunter syndrome)

B. Burton, J. Muenzer, C. Whitley, 2019, Molecular Genetics and Metabolism.

Elevated maternal serum alpha-fetoprotein (MSAFP): interpretation and follow-up.

B. Burton, 1988, Clinical obstetrics and gynecology.

Update on phase 1/2 clinical trials for MPS I and MPS II using ZFN-mediated in vivo genome editing

B. Burton, N. Leslie, J. Muenzer, 2018 .

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

B. Burton, M. Deardorff, E. Bedoukian, 2017, Clinical genetics.

Inherited metabolic disorders

B. Burton, 2020, Oxford Handbook of Nutrition and Dietetics.

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update

B. Burton, R. Hickey, L. Hitchins, 2020, International journal of neonatal screening.

Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses.

B. Burton, R. Katz, Katherine H. Kim, 2009, Molecular genetics and metabolism.

Newborn screening for mucopolysaccharidosis type II: Lessons learned.

B. Burton, V. Shively, D. Grange, 2023, Molecular genetics and metabolism.

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.

B. Burton, G. Hoganson, S. Braddock, 2019, The Journal of pediatrics.

Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II

B. Burton, Y. Messinger, Katherine H. Kim, 2014, Molecular genetics and metabolism reports.

Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data

B. Burton, K. Lindstrom, K. Cook, 2022, Molecular genetics and metabolism reports.

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria

B. Burton, C. Harding, R. Zori, 2019, Molecular genetics and metabolism.

Sialidosis (neuraminidase deficiency) types I and II: neuro-ophthalmic manifestations.

B. Burton, E. Roach, J. Till, 1987, Journal of clinical neuro-ophthalmology.

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.

B. Burton, A. T. van der Ploeg, N. Guffon, 2010, Molecular genetics and metabolism.

Dominant inheritance of microcephaly with short stature

B. Burton, 1981, Clinical genetics.

Inborn Errors of Metabolism

B. Burton, 1987, Pediatrics.

Risk of fetal chromosomal anomalies in patients with elevated maternal serum alpha‐fetoprotein

B. Burton, M. Pettenati, A. Warner, 1990, Obstetrics and gynecology.

Salmonella typhi meningitis in a neonate.

A. T. Davis, B. Burton, H. Traisman, 1977, American journal of diseases of children.

Outcome in infants born to mothers with unexplained elevations of maternal serum alpha-fetoprotein.

B. Burton, R. Dillard, 1986, Pediatrics.

Phenylketonuria in adulthood: A collaborative study

B. Burton, R. Koch, F. Guttler, 2002, Journal of Inherited Metabolic Disease.

Maternal serum alpha-fetoprotein screening: a report of the Forsyth County project.

B. Burton, A. Johnson, S. Gardner, 1981, American journal of obstetrics and gynecology.

alpha-Fetoprotein screening.

B. Burton, 1986, Advances in pediatrics.

Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.

John J. Mitchell, B. Burton, Philippe M. Campeau, 2022, Molecular Genetics and Metabolism.

UREA CYCLE DISORDERS

B. Burton, 2000 .

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study

B. Burton, C. Hendriksz, E. Jameson, 2016, American journal of medical genetics. Part A.