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Items: 1 to 20 of 81


Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C.

Clin Chem. 2017 Apr;63(4):842-851. doi: 10.1373/clinchem.2016.259036. Epub 2017 Feb 14.


Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

Lai CJ, Hsu TR, Yang CF, Chen SJ, Chuang YC, Niu DM.

J Child Neurol. 2016 Dec;31(14):1617-1621. Epub 2016 Sep 21.


Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity.

Smith BK, Martin AD, Lawson LA, Vernot V, Marcus J, Islam S, Shafi N, Corti M, Collins SW, Byrne BJ.

Exp Neurol. 2017 Jan;287(Pt 2):216-224. doi: 10.1016/j.expneurol.2016.07.013. Epub 2016 Jul 21.


Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.

Yang CF, Yang CC, Liao HC, Huang LY, Chiang CC, Ho HC, Lai CJ, Chu TH, Yang TF, Hsu TR, Soong WJ, Niu DM.

J Pediatr. 2016 Feb;169:174-80.e1. doi: 10.1016/j.jpeds.2015.10.078. Epub 2015 Dec 10.


Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up.

Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, Reuser AJ, van Doorn PA, van der Ploeg AT.

J Inherit Metab Dis. 2016 Mar;39(2):253-60. doi: 10.1007/s10545-015-9889-6. Epub 2015 Nov 3.


Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP.

JIMD Rep. 2015;19:67-73. doi: 10.1007/8904_2014_366. Epub 2015 Feb 15.


Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri.

Hopkins PV, Campbell C, Klug T, Rogers S, Raburn-Miller J, Kiesling J.

J Pediatr. 2015 Jan;166(1):172-7. doi: 10.1016/j.jpeds.2014.09.023. Epub 2014 Oct 18.


Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.

Sacconi S, Wahbi K, Theodore G, Garcia J, Salviati L, Bouhour F, Vial C, Duboc D, Laforêt P, Desnuelle C.

Neuromuscul Disord. 2014 Jul;24(7):648-50. doi: 10.1016/j.nmd.2014.04.005. Epub 2014 Apr 24.


Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.

Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J; Pompe Registry Boards of Advisors..

Am J Med Genet A. 2013 Oct;161A(10):2431-43. doi: 10.1002/ajmg.a.36110. Epub 2013 Aug 30.


B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.

Elder ME, Nayak S, Collins SW, Lawson LA, Kelley JS, Herzog RW, Modica RF, Lew J, Lawrence RM, Byrne BJ.

J Pediatr. 2013 Sep;163(3):847-54.e1. doi: 10.1016/j.jpeds.2013.03.002. Epub 2013 Apr 16.


Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

Amiñoso C, Vallespin E, Fernández L, Arrabal LF, Desviat LR, Pérez B, Santos F, Solera J.

Gene. 2013 Apr 25;519(1):169-72. doi: 10.1016/j.gene.2013.01.051. Epub 2013 Feb 9.


Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.

Ebbink BJ, Aarsen FK, van Gelder CM, van den Hout JM, Weisglas-Kuperus N, Jaeken J, Lequin MH, Arts WF, van der Ploeg AT.

Neurology. 2012 May 8;78(19):1512-8. doi: 10.1212/WNL.0b013e3182553c11. Epub 2012 Apr 25.


The emerging phenotype of long-term survivors with infantile Pompe disease.

Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS.

Genet Med. 2012 Sep;14(9):800-10. doi: 10.1038/gim.2012.44. Epub 2012 Apr 26.


Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.

Case LE, Beckemeyer AA, Kishnani PS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):69-79. doi: 10.1002/ajmg.c.31321. Epub 2012 Jan 17. Review.


Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):50-8. doi: 10.1002/ajmg.c.31320. Epub 2012 Jan 17.


Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17.


Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS.

Genet Med. 2012 Jan;14(1):135-42. doi: 10.1038/gim.2011.4.


Consensus treatment recommendations for late-onset Pompe disease.

Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease..

Muscle Nerve. 2012 Mar;45(3):319-33. doi: 10.1002/mus.22329. Epub 2011 Dec 15. Review.


Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC.

Lancet. 2012 Jan 28;379(9813):335-41. doi: 10.1016/S0140-6736(11)61266-X. Epub 2011 Nov 29.


Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.

van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doorn PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT.

J Inherit Metab Dis. 2012 May;35(3):505-11. doi: 10.1007/s10545-011-9404-7. Epub 2011 Oct 19.

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