Priya S Kishnani

Priya S Kishnani

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Publications by authors named "Priya S Kishnani"

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Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Ann Transl Med 2019 Jul;7(13):285

Division of Medical Genetics, Department of Pediatrics, Duke University Health System, Durham, NC, USA.

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http://dx.doi.org/10.21037/atm.2019.05.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642943PMC
July 2019

Liver depot gene therapy for Pompe disease.

Ann Transl Med 2019 Jul;7(13):288

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.21037/atm.2019.05.02DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642935PMC
July 2019

An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.

Ann Transl Med 2019 Jul;7(13):289

Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.

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http://dx.doi.org/10.21037/atm.2019.04.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642933PMC
July 2019

Gene therapy for glycogen storage diseases.

Hum Mol Genet 2019 Jun 22. Epub 2019 Jun 22.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1093/hmg/ddz133DOI Listing
June 2019

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia.

Bone 2019 Apr 18;121:149-162. Epub 2018 Dec 18.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.12.011DOI Listing
April 2019

Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.

Mol Ther Methods Clin Dev 2019 Mar 25;12:233-245. Epub 2019 Jan 25.

Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.omtm.2019.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376130PMC
March 2019

Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy.

Mol Genet Metab 2019 02 9;126(2):157-161. Epub 2018 Nov 9.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.11.004DOI Listing
February 2019

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

Mol Genet Metab 2019 02 23;126(2):106-116. Epub 2018 Aug 23.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 905 S. LaSalle street, GSRB1, Durham, NC, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183028
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http://dx.doi.org/10.1016/j.ymgme.2018.08.009DOI Listing
February 2019

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.

Am J Med Genet A 2019 01 20;179(1):85-93. Epub 2018 Dec 20.

F. Hoffmann-La Roche, Roche Pharma Research and Early Development, Neuroscience, Roche Innovation Center Basel, Basel, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.60685
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http://dx.doi.org/10.1002/ajmg.a.60685DOI Listing
January 2019

Role of continuous glucose monitoring in the management of glycogen storage disorders.

J Inherit Metab Dis 2018 11 25;41(6):917-927. Epub 2018 May 25.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 905 South LaSalle Street, GSRB1, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/s10545-018-0200-5DOI Listing
November 2018

Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al.

J Inherit Metab Dis 2018 11 25;41(6):913-914. Epub 2018 Sep 25.

Division of Medical Genetics, Duke University Medical Center, DUMC Box 103856, Durham, NC, 27710, USA.

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http://link.springer.com/10.1007/s10545-018-0248-2
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http://dx.doi.org/10.1007/s10545-018-0248-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501822PMC
November 2018

Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.

J Pediatr 2018 07 4;198:308-312. Epub 2018 Apr 4.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.02.007DOI Listing
July 2018

Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.

Mol Genet Metab 2018 02 13;123(2):85-91. Epub 2017 Oct 13.

Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808895PMC
February 2018

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Mol Genet Metab 2018 02 23;123(2):92-96. Epub 2017 Dec 23.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.12.435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808871PMC
February 2018

A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease.

Mol Genet Metab Rep 2017 Dec 23;13:18-22. Epub 2017 Jul 23.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2017.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524423PMC
December 2017

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mol Genet Metab 2017 12 17;122(4):189-197. Epub 2017 Oct 17.

Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907499PMC
December 2017

Response to de Vries et al.

Genet Med 2017 11 11;19(11):1281-1282. Epub 2017 May 11.

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

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http://dx.doi.org/10.1038/gim.2017.48DOI Listing
November 2017

PRKAG2 mutations presenting in infancy.

J Inherit Metab Dis 2017 11 11;40(6):823-830. Epub 2017 Aug 11.

Medical Genetics, Department of Pediatrics, Duke University Medical Center, DUMC 103856, 595 Lasalle Street, GSRB 1, 4th Floor, Room 4010, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/s10545-017-0072-0DOI Listing
November 2017

Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.

Am J Med Genet A 2017 Nov 31;173(11):3058-3066. Epub 2017 Aug 31.

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38416DOI Listing
November 2017

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

Am J Med Genet A 2017 Nov 8;173(11):3029-3041. Epub 2017 Sep 8.

Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38465DOI Listing
November 2017

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

Mol Genet Metab 2017 11 19;122(3):99-107. Epub 2017 Sep 19.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722675PMC
November 2017

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

JIMD Rep 2018 1;40:85-90. Epub 2017 Nov 1.

Division of Medical Genetics, Department of Pediatrics, Duke University Hospital, Durham, NC, USA.

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http://dx.doi.org/10.1007/8904_2017_66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122023PMC
November 2017

Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

Am J Med Genet A 2017 Oct 1;173(10):2628-2634. Epub 2017 Aug 1.

Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38369DOI Listing
October 2017

High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.

Mol Genet Metab 2017 09 18;122(1-2):76-79. Epub 2017 May 18.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612830PMC
September 2017

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.

Mol Genet Metab Rep 2017 Sep 22;12:82-84. Epub 2017 Jun 22.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2017.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489868PMC
September 2017

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Mol Genet Metab 2017 09 25;122(1-2):4-17. Epub 2017 Jul 25.

Department of Pediatrics, Osaka University, Suita, Osaka 565-0871, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.010DOI Listing
September 2017

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.

Mol Genet Metab 2017 Jan - Feb;120(1-2):96-100. Epub 2016 Sep 28.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.09.006DOI Listing
August 2017

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.

Pediatrics 2017 07;140(Suppl 1):S1-S3

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, and National Taiwan University College of Medicine, Taipei, Taiwan.

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http://dx.doi.org/10.1542/peds.2016-0280BDOI 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

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

Pediatrics 2017 Jul;140(Suppl 1):S24-S45

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.2016-0280EDOI Listing
July 2017

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

Mol Genet Metab 2017 06 1;121(2):127-137. Epub 2017 May 1.

Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985833PMC
June 2017

Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.

J Mol Med (Berl) 2017 05 2;95(5):513-521. Epub 2017 Feb 2.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/s00109-017-1505-9DOI Listing
May 2017

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

Hum Gene Ther 2017 03 10;28(3):286-294. Epub 2016 Nov 10.

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

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http://dx.doi.org/10.1089/hum.2016.099DOI Listing
March 2017

The emerging phenotype of late-onset Pompe disease: A systematic literature review.

Mol Genet Metab 2017 03 11;120(3):163-172. Epub 2016 Dec 11.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.12.004DOI Listing
March 2017

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.

Mol Genet Metab Rep 2016 Dec 4;9:31-33. Epub 2016 Oct 4.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2016.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053031PMC
December 2016

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.

Bone Rep 2016 Dec 26;5:228-232. Epub 2016 Aug 26.

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.bonr.2016.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440952PMC
December 2016

Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys.

Metabolism 2016 10 19;65(10):1522-30. Epub 2016 Jul 19.

Duke University Medical Center, 08 Baker House, DUMC 3470, Durham, NC, 27705, USA.

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http://dx.doi.org/10.1016/j.metabol.2016.07.006DOI Listing
October 2016

Physical therapy management of infants and children with hypophosphatasia.

Mol Genet Metab 2016 09 22;119(1-2):14-9. Epub 2016 Jun 22.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, GSRBI, Box 103856 DUMC, Durham, NC 27710, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.010DOI Listing
September 2016

Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver.

J Biol Chem 2016 08 29;291(32):16479-84. Epub 2016 Jun 29.

From the Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710

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http://www.jbc.org/content/early/2016/06/29/jbc.C116.741397.
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http://dx.doi.org/10.1074/jbc.C116.741397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974364PMC
August 2016

Death from supine asphyxia in late onset pompe disease: Two patients.

Am J Med Genet A 2016 07 4;170(7):1928-9. Epub 2016 May 4.

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

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http://dx.doi.org/10.1002/ajmg.a.37687DOI Listing
July 2016

Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.

Am J Med Genet A 2016 06 8;170(6):1545-55. Epub 2016 Apr 8.

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.37650DOI Listing
June 2016

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.

JIMD Rep 2016 26;30:89-94. Epub 2016 Jun 26.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/8904_2015_522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110445PMC
June 2016

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

JIMD Rep 2017 4;31:79-83. Epub 2016 May 4.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center (DUMC), Box 103856, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/8904_2016_563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388642PMC
May 2016

Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.

Mol Genet Metab 2016 Feb 8;117(2):120-8. Epub 2015 Sep 8.

Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153004
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http://dx.doi.org/10.1016/j.ymgme.2015.09.003DOI Listing
February 2016

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

Mol Genet Metab 2016 Feb 7;117(2):95-103. Epub 2015 Sep 7.

University Research Foundation for Lysosomal Storage Diseases, Inc., 7367 Wexford Terrace, Boca Raton, FL 33433, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.09.002DOI Listing
February 2016

A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.

Mol Genet Metab 2016 Feb 3;117(2):114-9. Epub 2015 Oct 3.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.

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http://dx.doi.org/10.1016/j.ymgme.2015.09.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755835PMC
February 2016

Natural Progression of Canine Glycogen Storage Disease Type IIIa.

Comp Med 2016 Feb;66(1):41-51

Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752035PMC
February 2016

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Mol Genet Metab Rep 2015 Dec;5:76-79

Division of Medical Genetics, Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2015.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4674832PMC
December 2015

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

Mol Genet Metab 2014 Sep-Oct;113(1-2):84-91. Epub 2014 Jul 16.

Genzyme, a Sanofi company, 500 Kendall Street, Cambridge, MA 02142, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.07.014DOI Listing
June 2015

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

JIMD Rep 2015 13;23:45-54. Epub 2015 Mar 13.

Division of Medical Genetics, Department of Pediatrics, Duke Medicine, 905 S. LaSalle St., GSRB1, Box 103856, Durham, NC, 27710, USA,

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http://dx.doi.org/10.1007/8904_2015_426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484900PMC
June 2015

Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.

Muscle Nerve 2015 May 26;51(5):722-30. Epub 2015 Mar 26.

Department of Radiology, Duke University Medical Center, Durham, North Carolina, USA.

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http://dx.doi.org/10.1002/mus.24437DOI Listing
May 2015

Quantitative assessment of lingual strength in late-onset Pompe disease.

Muscle Nerve 2015 May 16;51(5):731-5. Epub 2015 Jan 16.

Department of Surgery, Division of Speech Pathology & Audiology, 155 Baker House, Trent Drive, DUMC 3887, Durham, North Carolina, USA.

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http://dx.doi.org/10.1002/mus.24523DOI Listing
May 2015

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.

Neuromuscul Disord 2015 Apr 19;25(4):321-32. Epub 2014 Dec 19.

Duke University Medical Center, Durham, North Carolina, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.12.004DOI Listing
April 2015

Premature pubarche in children with Pompe disease.

J Pediatr 2015 Apr 14;166(4):1075-8.e1. Epub 2015 Feb 14.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2014.12.074DOI Listing
April 2015

Longitudinal polysomnographic findings in infantile Pompe disease.

Am J Med Genet A 2015 Apr 23;167A(4):858-61. Epub 2015 Feb 23.

Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

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http://doi.wiley.com/10.1002/ajmg.a.37007
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http://dx.doi.org/10.1002/ajmg.a.37007DOI Listing
April 2015

Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.

Am J Case Rep 2015 Apr 3;16:196-201. Epub 2015 Apr 3.

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.12659/AJCR.893309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387956PMC
April 2015

Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease.

JIMD Rep 2015 23;20:5-10. Epub 2015 Jan 23.

Department of Urology, Boston Children's Hospital, 300 Longwood Avenue Hunnewell 3, Boston, MA, 02115, USA,

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http://dx.doi.org/10.1007/8904_2014_381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375115PMC
March 2015

Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.

J Biol Chem 2015 Jan 8;290(5):3121-36. Epub 2014 Dec 8.

From the Department of Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin 53705, the Department of Cell and Regenerative Biology, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin 53706, the WiCell Institute, Madison, Wisconsin 53719,

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http://dx.doi.org/10.1074/jbc.M114.628628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317045PMC
January 2015

Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.

J Neuromuscul Dis 2015;2(s1):S7

Division of Therapeutic Proteins, Office of Biotechnology Products, Center for Drug Evaluation and Research, United States Food and Drug Administration.

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January 2015

Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease.

JIMD Rep 2015 25;15:67-70. Epub 2014 Mar 25.

Department of Urology, Boston Children's Hospital, 300 Longwood Ave. Hunnewell 3, Boston, MA, 02115, USA,

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http://dx.doi.org/10.1007/8904_2014_299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270873PMC
December 2014

Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations.

Mol Genet Metab Rep 2014 21;1:412-413. Epub 2014 Sep 21.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121341PMC
September 2014