ISNS General Guidelines for Neonatal Screening. International Society for Neonatal Screening. 2008, [Accessed Nov.2, 2011], [http://www.isns-neoscreening.org/htm/generalguidelines.htm]
Google Scholar
Bombard Y, Miller FA, Hayeems RZ, Avard D, Knoppers BM: Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening. Eur J Hum Genet. 2010, 18: 751-760. 10.1038/ejhg.2010.13.
Article
PubMed Central
PubMed
Google Scholar
The President's Council on Bioethics: The changing moral focus of newborn screening. 2008, [Accessed Nov.2, 2011], [http://bioethics.georgetown.edu/pcbe/reports/newborn_screening/Newborn%20Screening%20for%20the%20web.pdf]
Google Scholar
Marsden D, Levy H: Newborn screening of lysosomal storage disorders. Clin Chem. 2010, 56: 1071-1079. 10.1373/clinchem.2009.141622.
Article
CAS
PubMed
Google Scholar
Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, et al: Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999, 7: 713-716. 10.1038/sj.ejhg.5200367.
Article
CAS
PubMed
Google Scholar
Van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, et al: The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003, 112: 332-340. 10.1542/peds.112.2.332.
Article
PubMed
Google Scholar
van der Ploeg AT, Reuser AJ: Pompe's disease. Lancet. 2008, 372: 1342-1353. 10.1016/S0140-6736(08)61555-X.
Article
CAS
PubMed
Google Scholar
Kishnani PS, Corzo D, Leslie ND, Gruskin D, Van der PA, Clancy JP, et al: Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009, 66: 329-335. 10.1203/PDR.0b013e3181b24e94.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, et al: Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010, 99: 26-33. 10.1016/j.ymgme.2009.08.003.
Article
PubMed Central
CAS
PubMed
Google Scholar
Hagemans ML, Winkel LP, van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, et al: Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005, 128: 671-677. 10.1093/brain/awh384.
Article
CAS
PubMed
Google Scholar
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al: A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010, 362: 1396-1406. 10.1056/NEJMoa0909859.
Article
CAS
PubMed
Google Scholar
Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, et al: Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics. 2008, 122: e39-e45. 10.1542/peds.2007-2222.
Article
PubMed
Google Scholar
Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, et al: Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009, 124: e1116-e1125. 10.1542/peds.2008-3667.
Article
PubMed
Google Scholar
Chien YH, Lee NC, Huang HJ, Thurberg BL, Tsai FJ, Hwu WL: Later-onset pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr. 2011, 158: 1023-1027. 10.1016/j.jpeds.2010.11.053.
Article
PubMed
Google Scholar
Kumamoto S, Katafuchi T, Nakamura K, Endo F, Oda E, Okuyama T, et al: High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. Mol Genet Metab. 2009, 97: 190-195. 10.1016/j.ymgme.2009.03.004.
Article
CAS
PubMed
Google Scholar
Dajnoki A, Muhl A, Fekete G, Keutzer J, Orsini J, Dejesus V, et al: Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clin Chem. 2008, 54: 1624-1629. 10.1373/clinchem.2008.107722.
Article
CAS
PubMed
Google Scholar
Duffey TA, Bellamy G, Elliott S, Fox AC, Glass M, Turecek F, et al: A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler). Clin Chem. 2010, 56: 1854-1861. 10.1373/clinchem.2010.152009.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lukacs Z, Nieves CP, Mengel E, Hartung R, Beck M, Deschauer M, et al: Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis. 2010, 33: 43-50. 10.1007/s10545-009-9003-z.
Article
CAS
PubMed
Google Scholar
Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der HR, et al: Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat. 2008, 29: E13-E26. 10.1002/humu.20745.
Article
PubMed
Google Scholar
Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, et al: Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. J Neurol. 2008, 255: 831-838. 10.1007/s00415-008-0714-0.
Article
CAS
PubMed
Google Scholar
Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009, 40: 149-160.
Timmermans S, Buchbinder M: Patients-in-Waiting: Living between Sickness and Health in the Genomics Era. J Health Soc Behav. 2010, 51: 408-423. 10.1177/0022146510386794.
Article
PubMed
Google Scholar
Kwon JM, Steiner RD: "I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients. Neurology. 2011, 77: 522-523. 10.1212/WNL.0b013e318228c15f.
Article
PubMed
Google Scholar
Fletcher JM: Screening for lysosomal storage disorders-a clinical perspective. J Inherit Metab Dis. 2006, 29: 405-408. 10.1007/s10545-006-0246-7.
Article
PubMed
Google Scholar
Kemper AR, Hwu WL, Lloyd-Puryear M, Kishnani PS: Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics. 2007, 120: e1327-e1334. 10.1542/peds.2007-0388.
Article
PubMed
Google Scholar
Millington DS: Rapid and effective screening for lysosomal storage disease: how close are we?. Clin Chem. 2008, 54: 1592-1594. 10.1373/clinchem.2008.112110.
Article
CAS
PubMed
Google Scholar
Tarini BA, Burke W, Scott CR, Wilfond BS: Waiving informed consent in newborn screening research: balancing social value and respect. Am J Med Genet C Semin Med Genet. 2008, 148C: 23-30. 10.1002/ajmg.c.30164.
Article
PubMed
Google Scholar
Cederbaum S: Newborn screening: the spigot is open and threatens to become a flood. J Pediatr. 2007, 151: 108-110. 10.1016/j.jpeds.2007.04.035.
Article
PubMed
Google Scholar
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al: High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006, 79: 31-40. 10.1086/504601.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kemper AR, Knapp AA, Green NS, Comeau AM, Metterville DR, Perrin JM: Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genet Med. 2010, 12: 539-543. 10.1097/GIM.0b013e3181e85721.
Article
PubMed
Google Scholar
Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, et al: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936 + 919 G > A (IVS4 + 919 G > A). Hum Mutat. 2009, 30: 1397-1405. 10.1002/humu.21074.
Article
PubMed Central
CAS
PubMed
Google Scholar
Detmar S, Hosli E, Dijkstra N, Nijsingh N, Rijnders M, Verweij M: Information and informed consent for neonatal screening: opinions and preferences of parents. Birth. 2007, 34: 238-244. 10.1111/j.1523-536X.2007.00176.x.
Article
PubMed
Google Scholar
Detmar S, Dijkstra N, Nijsingh N, Rijnders M, Verweij M, Hosli E: Parental Opinions about the Expansion of the Neonatal Screening Programme. Community Genet. 2008, 11: 11-17. 10.1159/000111635.
Article
PubMed
Google Scholar
Tarini BA, Singer D, Clark SJ, Davis MM: Parents' interest in predictive genetic testing for their children when a disease has no treatment. Pediatrics. 2009, 124: e432-e438. 10.1542/peds.2008-2389.
Article
PubMed
Google Scholar
Plass AM, van El CG, Pieters T, Cornel MC: Neonatal screening for treatable and untreatable disorders: prospective parents' opinions. Pediatrics. 2010, 125: e99-e106. 10.1542/peds.2009-0269.
Article
PubMed
Google Scholar
Borry P, Schotsmans P, Dierickx K: The origin and emergence of empirical ethics. Empirical Ethics in Psychiatry. Edited by: Widdershoven G, MacMillan J, Hope T, Van der Scheer L. 2008, Oxford: Oxford University Press, 37-50.
Chapter
Google Scholar
Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE: Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006, 117: 1915-1921. 10.1542/peds.2005-2294.
Article
PubMed
Google Scholar
Brabers AEM, Reitsma-van Rooijen M, de Jong JD: [Consumer panel for health] Consumentenpanel Gezondheidszorg. Basisrapport met informatie over het panel (2011). [Accessed Nov.2, 2011], [http://www.nivel.nl/pdf/Rapport-Consumentenpanel-2011.pdf]
Central Committee for Research Involving Human Subjects, the Netherlands: [Guide for writing information for research subjects] Schrijfwijzer informatiebrief voor proefpersonen. 2008, [Accessed Nov. 2, 2011], [http://www.ccmo-online.nl/hipe/uploads/downloads_cato/Schrijfwijzer%20versie%203-11-08.pdf]
Google Scholar
de Jong M: Reader feedback in text design. Amsterdam, Atlanta: Rodopi BV; 1998
Google Scholar
Municipality of Amsterdam, Department of Research and Statistics: [New Definition of Allochtone People] Nieuwe definitie van allochtonen. 2006, [Accessed Nov.2, 2011], [http://www.os.amsterdam.nl/pdf/2006_definitie_allochtonen.pdf]
Google Scholar
Statistics Netherlands: [Working Population; sex and age] Beroepsbevolking; geslacht en leeftijd. 2011, [Accessed Nov.2, 2011], [http://statline.cbs.nl/StatWeb/publication/?DM=SLNL%26;PA=71738ned%26;D1=0,4%26;D2=0%26;D3=0%26;D4=1-3%26;D5=46-51%26;HDR=T,G4,G2%26;STB=G3,G1%26;VW=T]
Google Scholar
Statistics Netherlands: [Population; main statistics] Bevolking; kerncijfers. 2010, [Accessed June 23, 2011], [http://statline.cbs.nl/StatWeb/publication/?VW=T%26;DM=SLNL%26;PA=37296ned%a26;LA=NL]
Google Scholar
Boeije HR: Analysis in Qualitative Research. London: Sage Publications Ltd; 2010
Google Scholar
Newcombe RG, Altman DG: Proportions and their difference. Statistics with Confidence 2 edition. Edited by: Altman DG, Machin D, Bryant TN, Gardner MJ. Bristol: British Medical Journal; 2000:45-56.
Google Scholar
Morris JA, Gardner MJ: Epidemiological studies. Statistics with Confidence 2 edition. Edited by: Altman DG, Machin D, Bryant TN, Gardner MJ. Bristol: British Medical Journal; 2000:57-72.
Google Scholar
Levy PA: An overview of newborn screening. J Dev Behav Pediatr. 2010, 31: 622-631. 10.1097/DBP.0b013e3181eedf01.
Article
PubMed
Google Scholar
Health Council of the Netherlands: Neonatal Screening. 2005, The Hague: Health Council of the Netherlands, Publication no. 2005/11, [http://www.gezondheidsraad.nl/sites/default/files/05@11N.pdf]
Google Scholar
Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, et al: Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med. 2010, 12: 153-159. 10.1097/GIM.0b013e3181d2af04.
Article
PubMed
Google Scholar
Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2009, 17: 720-721.
Article
Google Scholar
Burke W, Coughlin SS, Lee NC, Weed DL, Khoury MJ: Application of population screening principles to genetic screening for adult-onset conditions. Genet Test. 2001, 5: 201-211. 10.1089/10906570152742245.
Article
CAS
PubMed
Google Scholar