Barbara K Burton

Barbara K Burton

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Barbara K Burton

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Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.

Mol Genet Metab 2018 11 12;125(3):228-234. Epub 2018 Sep 12.

Boston Children's Hospital and Harvard Medical School, 1 Autumn St., Rm #526, Boston, MA 02115, United States.

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http://dx.doi.org/10.1016/j.ymgme.2018.09.006DOI Listing
November 2018

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

Orphanet J Rare Dis 2018 07 4;13(1):108. Epub 2018 Jul 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Hospital, 12605 E. 16th St, Aurora, CO, 80045, USA.

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http://dx.doi.org/10.1186/s13023-018-0858-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031112PMC
July 2018

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

Mol Genet Metab 2018 05 18;124(1):20-26. Epub 2018 Mar 18.

Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh and Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183002
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http://dx.doi.org/10.1016/j.ymgme.2018.03.003DOI Listing
May 2018

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

Orphanet J Rare Dis 2018 02 1;13(1):30. Epub 2018 Feb 1.

Wadsworth Center, New York State Department of Health, Newborn Screening Program, David Axelrod Institute, 120 New Scotland Ave., Albany, NY, 12201, USA.

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http://dx.doi.org/10.1186/s13023-018-0766-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796396PMC
February 2018

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

J Pediatr 2017 11 17;190:130-135. Epub 2017 Jul 17.

Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL; Division of Laboratory Services, Tennessee Department of Health, Nashville, TN.

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http://dx.doi.org/10.1016/j.jpeds.2017.06.048DOI Listing
November 2017

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

J Inherit Metab Dis 2017 11 8;40(6):867-874. Epub 2017 Sep 8.

Willink Unit, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester and Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1007/s10545-017-0075-xDOI Listing
November 2017

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

Curr Med Res Opin 2017 07 3;33(7):1211-1214. Epub 2017 Apr 3.

b Alexion Pharmaceuticals Inc. , New Haven , CT , USA.

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http://dx.doi.org/10.1080/03007995.2017.1309371DOI Listing
July 2017

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

Pediatrics 2017 Jul;140(Suppl 1):S14-S23

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

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http://dx.doi.org/10.1542/peds.2016-0280DDOI Listing
July 2017

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.

Authors:
Barbara K Burton

J Pediatr Gastroenterol Nutr 2016 09;63(3):e39-40

Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.

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http://dx.doi.org/10.1097/MPG.0000000000001212DOI Listing
September 2016

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

Mol Genet Metab 2016 Jan 14;117(1):19-26. Epub 2015 Nov 14.

Division of Neuropediatrics and Pediatric Metabolic Medicine, University Children's Hospital Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.11.007DOI Listing
January 2016

Clinical Features of Lysosomal Acid Lipase Deficiency.

J Pediatr Gastroenterol Nutr 2015 Dec;61(6):619-25

*Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL †Department of Medicine, Addenbrooke's Hospital NHS Trust, Cambridge, UK ‡Medical Genetics Division, Stanford University, Stanford, CA §Department of Pediatrics, Regina Margherita Hospital, Turin, Italy ||Seattle Children's Hospital, Seattle, WA ¶Department of Vascular Medicine-Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands #New York-Presbyterian/Columbia University Medical Center, New York, NY **Department of Pediatrics, First Faculty of Medicine, Charles University, Prague, Czech Republic ††Departement de l'Enfant et de l'Adolescent, Hopitaux Universitaires de Geneve, Geneva, Switzerland ‡‡Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada §§Department of Pediatrics, Unit of Rare Diseases, Gaslini Institute Genoa, Genova, Italy ||||Department of Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK ¶¶Department of Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation, Salford, UK ##Screening Department, Institute of Mother and Child, Warsaw, Poland ***University of Minnesota, Minneapolis, MN †††Synageva BioPharma Corp, Lexington, MA ‡‡‡Hopital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1097/MPG.0000000000000935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4645959PMC
December 2015

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

N Engl J Med 2015 Sep;373(11):1010-20

From the Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children's Hospital, Chicago (B.K.B.); Icahn School of Medicine, Mount Sinai, New York (M.B.), and Women and Children's Hospital of Buffalo, Buffalo (R.E.) - both in New York; Centre Hospitalier Universitaire Brabois-Hôpital d'Enfants, Vandoeuvre-lès-Nancy (F.F.), and University Hospital Necker-Enfants Malades and Imagine Institute, Paris (V.V.) - both in France; University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia (I.B.); Cincinnati Children's Hospital Medical Center, Cincinnati (T.A.B.); Hospital Universitario La Paz, Madrid (C.C.G.); Ege University Medical Faculty, Izmir (M.C.), and Gazi University Medical Faculty, Ankara (F.E.) - both in Turkey; Hospital Infantil de México Federico Gómez, Mexico City (A.C.-S.); Cambridge University Hospitals, Cambridge, United Kingdom (P.D.); Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa (M.D.R.), and University of Padua, Padua (M.S.) - both in Italy; Stanford University, Palo Alto (G.M.E.), and University of California, San Francisco, San Francisco ( J.K.) - both in California; Children's Hospital of Philadelphia, Philadelphia (C.F.); Alfred I. duPont Hospital for Children, Wilmington, DE (K.N.F.); University of Arizona Cancer Center, Tucson (C.L.); Villa Metabolica, Center of Pediatric and Adolescent Medicine, University of Mainz, Mainz (E.M.), and University Hospital Freiburg, Freiburg (K.O.S.) - both in Germany; Boston Children's Hospital, Boston (E.G.N.), and Synageva BioPharma, Lexington (Y.Y., S.E., S.R.-C., A.G.Q.) - both in Massachusetts; John Hunter Children's Hospital, and Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, NSW (S.N.), Royal Children's Hospital, Parkville, VIC (H.P.), and Royal Brisbane and Women's Hospital, Brisbane, QLD (M.W.) - all in Australia; Faculty Hospital, Palacky University, Olomouc, Czech Republic

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http://dx.doi.org/10.1056/NEJMoa1501365DOI Listing
September 2015

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

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

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

Mol Genet Metab Rep 2015 Mar 27;2:20-24. Epub 2014 Nov 27.

Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Feinberg School of Medicine, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2014.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471157PMC
March 2015

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

J Inherit Metab Dis 2014 Sep 5;37(5):823-9. Epub 2014 Mar 5.

Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of Mainz, Mainz, Germany,

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http://dx.doi.org/10.1007/s10545-014-9686-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158409PMC
September 2014

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

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

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

Mol Genet Metab 2014 May 12;112(1):9-16. Epub 2014 Mar 12.

BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.02.016DOI Listing
May 2014

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

Mol Genet Metab 2014 Feb 4;111(2):203-4. Epub 2013 Nov 4.

Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital, 225 E. Chicago Avenue, Chicago, IL 60611, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.015DOI Listing
February 2014

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Genet Med 2014 Feb 10;16(2):188-200. Epub 2013 Oct 10.

Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2013.157DOI Listing
February 2014

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

Mol Genet Metab 2013 Aug 21;109(4):382-5. Epub 2013 Jun 21.

Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.06.012DOI Listing
August 2013

Psychiatric symptoms in adults with phenylketonuria.

Mol Genet Metab 2013 Mar 31;108(3):155-60. Epub 2012 Dec 31.

Department of Psychiatry, Division of Child and Adolescent Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.12.006DOI Listing
March 2013

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

Mol Genet Metab 2013 Jan 15;108(1):8-12. Epub 2012 Nov 15.

Ann and Robert H. Lurie Children's Hospital of Chicago (formerly Children's Memorial Hospital), Chicago, IL 60601, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120041
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http://dx.doi.org/10.1016/j.ymgme.2012.11.003DOI Listing
January 2013

Survey of health status and complications among propionic acidemia patients.

Am J Med Genet A 2012 Jul 7;158A(7):1641-6. Epub 2012 Jun 7.

University of Illinois at Chicago, Chicago, Illinois 60612, USA.

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http://dx.doi.org/10.1002/ajmg.a.35387DOI Listing
July 2012

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

Eur J Pediatr 2012 Apr 1;171(4):631-9. Epub 2012 Mar 1.

Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, 2300 Children's Plaza, Chicago, IL 60614, USA.

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http://dx.doi.org/10.1007/s00431-012-1703-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306562PMC
April 2012

Newborn screening for Pompe disease: an update, 2011.

Authors:
Barbara K Burton

Am J Med Genet C Semin Med Genet 2012 Feb 17;160C(1):8-12. Epub 2012 Jan 17.

Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, Chicago, IL 60614, USA.

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http://dx.doi.org/10.1002/ajmg.c.31315DOI Listing
February 2012

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).

Mol Genet Metab 2011 Jun 4;103(2):113-20. Epub 2011 Mar 4.

Dept. of Pediatrics, Northwestern University Feinberg School of Medicine, Children's Memorial Hospital, 2300 Children's Plaza, Chicago, IL 60614, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100061
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http://dx.doi.org/10.1016/j.ymgme.2011.02.018DOI Listing
June 2011

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.

J Pediatr 2011 Mar;158(3):410-5

Department of Pediatrics, Northwestern University Feinberg School of Medicine and PKU Clinic, Children's Memorial Hospital, Chicago, IL 60614-3363, USA.

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http://dx.doi.org/10.1016/j.jpeds.2010.08.016DOI Listing
March 2011

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

Mol Genet Metab 2010 Oct-Nov;101(2-3):146-8. Epub 2010 Jun 22.

PKU Clinic, Children's Memorial Hospital, Chicago, IL 60614, United States.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.006DOI Listing
January 2011

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

Mol Genet Metab 2010 Oct-Nov;101(2-3):123-9. Epub 2010 Jun 23.

Northwestern University Feinberg School of Medicine and Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, 2300 Children's Plaza, Chicago, IL 60614, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.011DOI Listing
January 2011

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

Mol Genet Metab 2010 Oct-Nov;101(2-3):110-4. Epub 2010 Jun 27.

Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60614, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.015DOI Listing
January 2011

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

Mol Genet Metab 2009 Jul 21;97(3):234-6. Epub 2009 Apr 21.

Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.04.007DOI Listing
July 2009

Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

Ann Neurol 2009 Jan;65(1):83-9

Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, NY, USA.

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http://dx.doi.org/10.1002/ana.21553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2639628PMC
January 2009

A letter from the SIMD president.

Authors:
Barbara K Burton

Mol Genet Metab 2008 Jun 5;94(2):141-2. Epub 2008 May 5.

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http://dx.doi.org/10.1016/j.ymgme.2008.04.005DOI Listing
June 2008

Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]).

Pediatrics 2008 Mar 4;121(3):e714-7. Epub 2008 Feb 4.

Division of Genetics, Birth Defects, and Metabolism, Children's Memorial Hospital, 2300 Children's Plaza, Box 59, Chicago, IL 60614, USA.

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http://dx.doi.org/10.1542/peds.2007-0665DOI Listing
March 2008

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

Mol Genet Metab 2008 Jan 31;93(1):36-9. Epub 2007 Oct 31.

Division of Birth Defects and Metabolism, Department of Pediatrics, Children's Memorial Hospital, Northwestern University, Feinberg School of Medicine, 2300 Children's Plaza, Chicago, IL 60614, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.015DOI Listing
January 2008

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

J Pediatr 2007 Nov;151(5):538-41

Department of Pediatrics, Section of Critical Care, Children's Memorial Hospital, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

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http://dx.doi.org/10.1016/j.jpeds.2007.05.009DOI Listing
November 2007

An 8-year-old girl with short stature. Noonam syndrome.

Authors:
Barbara K Burton

Pediatr Ann 2007 May;36(5):267-8

Northwestern University Feinberg School of Medicine, USA.

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http://dx.doi.org/10.3928/0090-4481-20070501-09DOI Listing
May 2007

A 12 year old with scoliosis. Marfan syndrome.

Authors:
Barbara K Burton

Pediatr Ann 2007 May;36(5):272, 274

Northwestern University Feinberg School of Medicine, USA.

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http://dx.doi.org/10.3928/0090-4481-20070501-11DOI Listing
May 2007

A 30 month old with speech delay. Fragile X syndrome.

Authors:
Barbara K Burton

Pediatr Ann 2007 May;36(5):280-1

Northwestern University Feinberg School of Medicine, Children's Memorial Hospital, Chicago, IL 60614, USA.

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http://dx.doi.org/10.3928/0090-4481-20070501-14DOI Listing
May 2007

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

Am J Med Genet A 2007 Apr;143A(7):678-86

Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA.

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http://dx.doi.org/10.1002/ajmg.a.31630DOI Listing
April 2007