JOHANNES C. POMPE, MD, HERO OF NEUROSCIENCE: THE MAN BEHIND THE SYNDROMEZEIDMAN, Lawrence A.Muscle & nerve. 2012, Vol 46, Num 1, pp 134-138, issn 0148-639X, 5 p.Article

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trialSTROTHOTTE, S; STRIGL-PILL, N; BREJOVA, A et al.Journal of neurology. 2010, Vol 257, Num 1, pp 91-97, issn 0340-5354, 7 p.Article

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutationsOBA-SHINJO, Sueli M; DA SILVA, Roseli; MUNOZ, Verônica et al.Journal of neurology. 2009, Vol 256, Num 11, pp 1881-1890, issn 0340-5354, 10 p.Article

BOTH TYPE 1 AND TYPE 2a MUSCLE FIBERS CAN RESPOND TO ENZYME THERAPY IN POMPE DISEASEDROST, Maarten R; SCHAART, Gert; VAN DIJK, Paul et al.Muscle & nerve. 2008, Vol 37, Num 2, pp 251-255, issn 0148-639X, 5 p.Article

Pompe Disease: Early Diagnosis and Early Treatment Make a DifferenceCHIEN, Yin-Hsiu; HWU, Wuh-Liang; LEE, Ni-Chung et al.Pediatrics & neonatology (Print). 2013, Vol 54, Num 4, pp 219-227, issn 1875-9572, 9 p.Article

24-Months results in two adults with Pompe disease on enzyme replacement therapyVIELHABER, Stefan; BREJOVA, Andrea; DEBSKA-VIELHABER, Grazyna et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2011, Vol 113, Num 5, pp 350-357, issn 0303-8467, 8 p.Article

The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findingsHOBSON-WEBB, Lisa D; DEARMEY, Stephanie; KISHNANI, Priya S et al.Clinical neurophysiology. 2011, Vol 122, Num 11, pp 2312-2317, issn 1388-2457, 6 p.Article

Use of the muscle volume analyzer to evaluate enzyme replacement therapy in late-onset Pompe diseaseSUGAI, Fuminobu; KOKUNAI, Yosuke; YAMAMOTO, Yoichi et al.Journal of neurology. 2010, Vol 257, Num 3, pp 461-463, issn 0340-5354, 3 p.Article

Hydrostatic isolated limb perfusion with adeno-associated virus vectors enhances correction of skeletal muscle in Pompe diseaseSUN, B; LI, S; BIRD, A et al.Gene therapy (Basingstoke). 2010, Vol 17, Num 12, pp 1500-1505, issn 0969-7128, 6 p.Article

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type IIPITTIS, Maria Gabriela; MONTALVO, Anna Lisa E; MIOCIC, Snjezana et al.American journal of medical genetics. 2003, Vol 121A, Num 3, pp 225-230, issn 0148-7299, 6 p.Article

Determination of acid α-glucosidase activity in blood spots as a diagnostic test for Pompe diseaseUMAPATHYSIVAM, Kandiah; HOPWOOD, John J; MEIKLE, Peter J et al.Clinical chemistry (Baltimore, Md.). 2001, Vol 47, Num 8, pp 1378-1383, issn 0009-9147Article

CONSENSUS TREATMENT RECOMMENDATIONS FOR LATE-ONSET POMPE DISEASECUPLER, Edward J; BERGER, Kenneth I; LESHNER, Robert T et al.Muscle & nerve. 2012, Vol 45, Num 3, pp 319-333, issn 0148-639X, 15 p.Article

Newborn Screening for Pompe Disease: An Update, 2011BURTON, Barbara K.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 8-12, issn 1552-4868, 5 p.Article

The Genotype―-Phenotype Correlation in Pompe DiseaseKROOS, Marian; HOOGEVEEN-WESTERVELD, Marianne; VAN DER PLOEG, Ans et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 59-68, issn 1552-4868, 10 p.Article

Toward Deconstructing the Phenotype of Late-Onset Pompe DiseaseSCHULLER, Angela; WENNINGER, Stephan; STRIGL-PILL, Nicola et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 80-88, issn 1552-4868, 9 p.Article

Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activatorsMARUGAN, Juan J; WEI ZHENG; MOTABAR, Omid et al.European journal of medicinal chemistry. 2010, Vol 45, Num 5, pp 1880-1897, issn 0223-5234, 18 p.Article

Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reductionKYOSEN, S. O; IIZUKA, S; KOBAYASHI, H et al.Gene therapy (Basingstoke). 2010, Vol 17, Num 4, pp 521-530, issn 0969-7128, 10 p.Article

Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two casesDEL GAIZO, Andrew; BANERJEE, Sima; TERK, Michael et al.Skeletal radiology. 2009, Vol 38, Num 12, pp 1205-1208, issn 0364-2348, 4 p.Article

Waiving Informed Consent in Newborn Screening Research : Balancing Social Value and RespectTARINI, Beth A; BURKE, Wylie; SCOTT, C. Ronald et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2008, Vol 148, Num 1, pp 23-30, issn 1552-4868, 8 p.Article

The Role of Immune Tolerance Induction in Restoration of the Efficacy of ERT in Pompe DiseaseLACANA, Emanuela; YAO, Lynne P; PARISER, Anne R et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 30-39, issn 1552-4868, 10 p.Article

Predicting Cross-Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned From 10 Years of Clinical Laboratory Testing ExperienceBALI, Deeksha S; GOLDSTEIN, Jennifer L; BANUGARIA, Suhrad et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 40-49, issn 1552-4868, 10 p.Article

EXPANDING THE PHENOTYPE OF LATE-ONSET POMPE DISEASE: TONGUE WEAKNESS: A NEW CLINICAL OBSERVATIONDUBROVSKY, Alberto; CORDERI, Jose; LIN, Min et al.Muscle & nerve. 2011, Vol 44, Num 6, pp 897-901, issn 0148-639X, 5 p.Article

Newborn Screening for Lysosomal Storage DisordersNAKAMURA, Kimitoshi; HATTORI, Kiyoko; ENDO, Fumio et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 1, pp 63-71, issn 1552-4868, 9 p.Article

Low bone mass in Pompe disease Muscular strength as a predictor of bone mineral densityVAN DEN BERG, Linda E. M; ZANDBERGEN, Adrienne A; VAN CAPELLE, Carine I et al.Bone (New York, NY). 2010, Vol 47, Num 3, pp 643-649, issn 8756-3282, 7 p.Article

DIAGNOSTIC CRITERIA FOR LATE-ONSET (CHILDHOOD AND ADULT) POMPE DISEASEMuscle & nerve. 2009, Vol 40, Num 1, pp 149-160, issn 0148-639X, 12 p.Article