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PY - 1999 DA - 1999// TI - Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling JO - Eur J Hum Genet VL - 7 UR - https://doi.org/10.1038/sj.ejhg.5200367 DO - 10.1038/sj.ejhg.5200367 ID - Ausems1999 ER - TY - JOUR AU - Van den Hout, H. M. AU - Hop, W. AU - van Diggelen, O. P. AU - Smeitink, J. A. AU - Smit, G. P. AU - Poll-The, B. T. PY - 2003 DA - 2003// TI - The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature JO - Pediatrics VL - 112 UR - https://doi.org/10.1542/peds.112.2.332 DO - 10.1542/peds.112.2.332 ID - Van den Hout2003 ER - TY - JOUR AU - van der Ploeg, A. T. AU - Reuser, A. J. PY - 2008 DA - 2008// TI - Pompe's disease JO - Lancet VL - 372 UR - https://doi.org/10.1016/S0140-6736(08)61555-X DO - 10.1016/S0140-6736(08)61555-X ID - van der Ploeg2008 ER - TY - JOUR AU - Kishnani, P. S. AU - Corzo, D. AU - Leslie, N. D. AU - Gruskin, D. AU - Van der, P. A. AU - Clancy, J. P. PY - 2009 DA - 2009// TI - Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease JO - Pediatr Res VL - 66 UR - https://doi.org/10.1203/PDR.0b013e3181b24e94 DO - 10.1203/PDR.0b013e3181b24e94 ID - Kishnani2009 ER - TY - JOUR AU - Kishnani, P. S. AU - Goldenberg, P. C. AU - DeArmey, S. L. AU - Heller, J. AU - Benjamin, D. AU - Young, S. PY - 2010 DA - 2010// TI - Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants JO - Mol Genet Metab VL - 99 UR - https://doi.org/10.1016/j.ymgme.2009.08.003 DO - 10.1016/j.ymgme.2009.08.003 ID - Kishnani2010 ER - TY - JOUR AU - Hagemans, M. L. AU - Winkel, L. P. AU - van Doorn, P. A. AU - Hop, W. J. AU - Loonen, M. C. AU - Reuser, A. J. PY - 2005 DA - 2005// TI - Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients JO - Brain VL - 128 UR - https://doi.org/10.1093/brain/awh384 DO - 10.1093/brain/awh384 ID - Hagemans2005 ER - TY - JOUR AU - van der Ploeg, A. T. AU - Clemens, P. R. AU - Corzo, D. AU - Escolar, D. M. AU - Florence, J. AU - Groeneveld, G. J. PY - 2010 DA - 2010// TI - A randomized study of alglucosidase alfa in late-onset Pompe's disease JO - N Engl J Med VL - 362 UR - https://doi.org/10.1056/NEJMoa0909859 DO - 10.1056/NEJMoa0909859 ID - van der Ploeg2010 ER - TY - JOUR AU - Chien, Y. H. AU - Chiang, S. C. AU - Zhang, X. K. AU - Keutzer, J. AU - Lee, N. C. AU - Huang, A. C. PY - 2008 DA - 2008// TI - Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program JO - Pediatrics VL - 122 UR - https://doi.org/10.1542/peds.2007-2222 DO - 10.1542/peds.2007-2222 ID - Chien2008 ER - TY - JOUR AU - Chien, Y. H. AU - Lee, N. C. 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PY - 2009 DA - 2009// TI - High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population JO - Mol Genet Metab VL - 97 UR - https://doi.org/10.1016/j.ymgme.2009.03.004 DO - 10.1016/j.ymgme.2009.03.004 ID - Kumamoto2009 ER - TY - JOUR AU - Dajnoki, A. AU - Muhl, A. AU - Fekete, G. AU - Keutzer, J. AU - Orsini, J. AU - Dejesus, V. PY - 2008 DA - 2008// TI - Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry JO - Clin Chem VL - 54 UR - https://doi.org/10.1373/clinchem.2008.107722 DO - 10.1373/clinchem.2008.107722 ID - Dajnoki2008 ER - TY - JOUR AU - Duffey, T. A. AU - Bellamy, G. AU - Elliott, S. AU - Fox, A. C. AU - Glass, M. AU - Turecek, F. PY - 2010 DA - 2010// TI - A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler) JO - Clin Chem VL - 56 UR - https://doi.org/10.1373/clinchem.2010.152009 DO - 10.1373/clinchem.2010.152009 ID - Duffey2010 ER - TY - JOUR AU - Lukacs, Z. AU - Nieves, C. P. AU - Mengel, E. AU - Hartung, R. AU - Beck, M. AU - Deschauer, M. PY - 2010 DA - 2010// TI - Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening JO - J Inherit Metab Dis VL - 33 UR - https://doi.org/10.1007/s10545-009-9003-z DO - 10.1007/s10545-009-9003-z ID - Lukacs2010 ER - TY - JOUR AU - Kroos, M. AU - Pomponio, R. J. AU - van Vliet, L. AU - Palmer, R. E. AU - Phipps, M. AU - Van der, H. R. PY - 2008 DA - 2008// TI - Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating JO - Hum Mutat VL - 29 UR - https://doi.org/10.1002/humu.20745 DO - 10.1002/humu.20745 ID - Kroos2008 ER - TY - JOUR AU - Wan, L. AU - Lee, C. C. AU - Hsu, C. M. AU - Hwu, W. L. AU - Yang, C. C. AU - Tsai, C. H. PY - 2008 DA - 2008// TI - Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II JO - J Neurol VL - 255 UR - https://doi.org/10.1007/s00415-008-0714-0 DO - 10.1007/s00415-008-0714-0 ID - Wan2008 ER - TY - STD TI - Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009, 40: 149-160. ID - ref21 ER - TY - JOUR AU - Timmermans, S. AU - Buchbinder, M. PY - 2010 DA - 2010// TI - Patients-in-Waiting: Living between Sickness and Health in the Genomics Era JO - J Health Soc Behav VL - 51 UR - https://doi.org/10.1177/0022146510386794 DO - 10.1177/0022146510386794 ID - Timmermans2010 ER - TY - JOUR AU - Kwon, J. M. AU - Steiner, R. D. PY - 2011 DA - 2011// TI - "I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients JO - Neurology VL - 77 UR - https://doi.org/10.1212/WNL.0b013e318228c15f DO - 10.1212/WNL.0b013e318228c15f ID - Kwon2011 ER - TY - JOUR AU - Fletcher, J. M. PY - 2006 DA - 2006// TI - Screening for lysosomal storage disorders-a clinical perspective JO - J Inherit Metab Dis VL - 29 UR - https://doi.org/10.1007/s10545-006-0246-7 DO - 10.1007/s10545-006-0246-7 ID - Fletcher2006 ER - TY - JOUR AU - Kemper, A. R. AU - Hwu, W. L. AU - Lloyd-Puryear, M. AU - Kishnani, P. S. PY - 2007 DA - 2007// TI - Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations JO - Pediatrics VL - 120 UR - https://doi.org/10.1542/peds.2007-0388 DO - 10.1542/peds.2007-0388 ID - Kemper2007 ER - TY - JOUR AU - Millington, D. S. PY - 2008 DA - 2008// TI - Rapid and effective screening for lysosomal storage disease: how close are we? JO - Clin Chem VL - 54 UR - https://doi.org/10.1373/clinchem.2008.112110 DO - 10.1373/clinchem.2008.112110 ID - Millington2008 ER - TY - JOUR AU - Tarini, B. A. AU - Burke, W. AU - Scott, C. R. AU - Wilfond, B. S. PY - 2008 DA - 2008// TI - Waiving informed consent in newborn screening research: balancing social value and respect JO - Am J Med Genet C Semin Med Genet VL - 148C UR - https://doi.org/10.1002/ajmg.c.30164 DO - 10.1002/ajmg.c.30164 ID - Tarini2008 ER - TY - JOUR AU - Cederbaum, S. PY - 2007 DA - 2007// TI - Newborn screening: the spigot is open and threatens to become a flood JO - J Pediatr VL - 151 UR - https://doi.org/10.1016/j.jpeds.2007.04.035 DO - 10.1016/j.jpeds.2007.04.035 ID - Cederbaum2007 ER - TY - JOUR AU - Spada, M. AU - Pagliardini, S. AU - Yasuda, M. AU - Tukel, T. AU - Thiagarajan, G. AU - Sakuraba, H. PY - 2006 DA - 2006// TI - High incidence of later-onset fabry disease revealed by newborn screening JO - Am J Hum Genet VL - 79 UR - https://doi.org/10.1086/504601 DO - 10.1086/504601 ID - Spada2006 ER - TY - JOUR AU - Kemper, A. R. AU - Knapp, A. A. AU - Green, N. S. AU - Comeau, A. M. AU - Metterville, D. R. AU - Perrin, J. M. PY - 2010 DA - 2010// TI - Weighing the evidence for newborn screening for early-infantile Krabbe disease JO - Genet Med VL - 12 UR - https://doi.org/10.1097/GIM.0b013e3181e85721 DO - 10.1097/GIM.0b013e3181e85721 ID - Kemper2010 ER - TY - JOUR AU - Hwu, W. L. AU - Chien, Y. H. AU - Lee, N. C. AU - Chiang, S. C. 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PY - 2008 DA - 2008// TI - Parental Opinions about the Expansion of the Neonatal Screening Programme JO - Community Genet VL - 11 UR - https://doi.org/10.1159/000111635 DO - 10.1159/000111635 ID - Detmar2008 ER - TY - JOUR AU - Tarini, B. A. AU - Singer, D. AU - Clark, S. J. AU - Davis, M. M. PY - 2009 DA - 2009// TI - Parents' interest in predictive genetic testing for their children when a disease has no treatment JO - Pediatrics VL - 124 UR - https://doi.org/10.1542/peds.2008-2389 DO - 10.1542/peds.2008-2389 ID - Tarini2009 ER - TY - JOUR AU - Plass, A. M. AU - van El, C. G. AU - Pieters, T. AU - Cornel, M. C. PY - 2010 DA - 2010// TI - Neonatal screening for treatable and untreatable disorders: prospective parents' opinions JO - Pediatrics VL - 125 UR - https://doi.org/10.1542/peds.2009-0269 DO - 10.1542/peds.2009-0269 ID - Plass2010 ER - TY - CHAP AU - Borry, P. AU - Schotsmans, P. AU - Dierickx, K. ED - Widdershoven, G. ED - MacMillan, J. ED - Hope, T. ED - Van der Scheer, L. 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