Current status of newborn screening worldwide: 2015

Therrell, 2010, Newborn dried bloodspot screening, 133

〈www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.html〉; Accessed 10.01.15.

Therrell, 2007, Newborn screening in North America, J Inherit Metab Dis, 30, 447, 10.1007/s10545-007-0690-z

Loeber, 2007, Neonatal screening in Europe: the situation in 2004, J Inherit Metab Dis, 30, 430, 10.1007/s10545-007-0644-5

Bodamer, 2007, Expanded newborn screening in Europe 2007, J Inherit Metab Dis, 30, 439, 10.1007/s10545-007-0666-z

Padilla, 2007, Newborn screening in the Asia Pacific region, J Inherit Metab Dis, 30, 490, 10.1007/s10545-007-0687-7

Borrajo, 2007, Newborn screening in Latin America at the beginning of the 21st century, J Inherit Metab Dis, 30, 466, 10.1007/s10545-007-0669-9

Saadallah, 2007, Newborn screening: experiences in the Middle East and North Africa, J Inherit Metab Dis, 30, 482, 10.1007/s10545-007-0660-5

Lindner, 2007, Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg, J Inherit Metab Dis, 30, 522, 10.1007/s10545-007-0553-7

White, 2010, The evolution of early hearing detection and intervention programs in the United States, Semin Perinatol, 34, 170, 10.1053/j.semperi.2009.12.009

Olney, 2015, Detection of critical congenital heart defects: review of contributions from prenatal and newborn screening, Semin Perinatol, 39

Hannon, 2013

Adeniran, 2012, Review article on congenital hypothyroidism and newborn screening program in Africa; the present situation and the way forward, J Thyroid Disord Ther, 10.4172/2167-7948.1000102

Tshilolo, 2008, Neonatal screening and clinical care programmes for sickle cell disorders in sub-Saharan Africa: lessons from pilot studies, Public Health, 122, 933, 10.1016/j.puhe.2007.12.005

Mutesa, 2007, Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test, J Med Screen, 14, 113, 10.1258/096914107782066211

Ohene-Frempong, 2008, Screening newborns for sickle cell disease in Ghana, Pediatrics, 121, S120, 10.1542/peds.2007-2022UUU

Treadwell, 2015, Using formative research to develop a counselor training program for newborn screening in Ghana, Genet Couns, 24, 267, 10.1007/s10897-014-9759-7

Adeniran, 2010, Thyroid profile of term appropriate for gestational age neonates in Nigeria: a forerunner to screening for congenital hypothyroidism, J Trop Pediatr, 56, 329, 10.1093/tropej/fmp143

Makani, 2015, Health policy for sickle cell disease in Africa: experience from Tanzania on interventions to reduce under-five mortality, Trop Med Int Health, 20, 184, 10.1111/tmi.12428

McGann, 2013, A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola, Am J Hematol, 88, 984, 10.1002/ajh.23578

Feleke, 2000, Neonatal congenital hypothyroidism screening in Addis Ababa, Ethiopia, East Afr Med J, 77, 377

Tshilolo, 2009, Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31,204 newborns, J Clin Pathol, 62, 35, 10.1136/jcp.2008.058958

Lebea, 2008, Newborn screening for classic galactosemia and primary congenital hypothyroidism in the Nkangala district of the Mpumalanga province of South Africa, S Afr J Child Health, 2, 19

Malan L, Reinecke CJ. Towards a newborn screening system for South Africa: the need for a systems approach. Proceedings of the 12th Annual CPTS Working Conference; 2006:62-78.

Morales, 2009, Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment, Genet Med, 11, 169, 10.1097/GIM.0b013e318193076f

Newborn Screening Task Force, American Academy of Pediatrics, 2000, Serving the family from birth to the medical home. Newborn screening: a blueprint for the future, Pediatrics, 106, S383

Public Law 110-204. Newborn screening saves lives Act of 2008. 〈https://www.govtrack.us/congress/bills/110/s1858/text〉; Accessed 26.12.14.

Public Law 113-240. Newborn screening saves lives reauthorization Act of 2014. 〈https://www.govtrack.us/congress/bills/113/hr1281/text〉; Accessed 26.12.14.

〈www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/index.html〉; Accessed 26.12.14.

American College of Medical Genetics, Newborn Screening Expert Group, 2006, Newborn screening: toward a uniform screening panel and system, Genet Med, 8, 1S

Kemper, 2014, Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, Genet Med, 16, 183, 10.1038/gim.2013.98

〈www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/nominatecondition/workgroup.html〉; Accessed 26.12.14.

Kwan, 2015, History and current status of newborn screening for severe combined immunodeficiency, Semin Perinatol, 39

Verbsky, 2012, Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008–2011), J Clin Immunol, 32, 82, 10.1007/s10875-011-9609-4

Kwan, 2013, Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years, J Allergy Clin Immunol, 132, 140, 10.1016/j.jaci.2013.04.024

Vogel, 2014, Newborn screening for SCID in New York State: experience from the first two years, J Clin Immunol, 34, 289, 10.1007/s10875-014-0006-7

Kwan, 2014, Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States, J Am Med Assoc, 312, 729, 10.1001/jama.2014.9132

Therrell, 2013, Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), Genet Med, 15, 229, 10.1038/gim.2012.121

Duffner, 2009, Newborn screening for Krabbe disease: the New York State model, Pediatr Neurol, 40, 245, 10.1016/j.pediatrneurol.2008.11.010

De Jesús, 2013, Dried blood spot quality control materials for newborn screening to detect lysosomal storage disorders, Clin Chem, 59, 1275, 10.1373/clinchem.2013.209940

Matern, 2015, Newborn screening for lysosomal storage diseases, Semin Perinatol, 39

Hopkins, 2015, Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri, J Pediatr, 166, 172, 10.1016/j.jpeds.2014.09.023

Hubbard, 2009, Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method, Mol Genet Metab, 97, 212, 10.1016/j.ymgme.2009.03.010

Theda, 2014, Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible, Mol Genet Metab, 111, 55, 10.1016/j.ymgme.2013.10.019

Turgeon, 2015, Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy, Mol Genet Metab, 114, 46, 10.1016/j.ymgme.2014.11.013

Haynes, 2015, The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening, Clin Biochem, 48, 8, 10.1016/j.clinbiochem.2014.10.001

Sorensen, 2013, Newborn screening and cascade testing for FMR1 mutations, Am J Med Genet A, 161A, 59, 10.1002/ajmg.a.35680

Taylor, 2015, Newborn bloodspot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency, Clin Chem, 61, 412, 10.1373/clinchem.2014.231019

Dobrowolski, 2012, Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling, Clin Chem, 58, 1033, 10.1373/clinchem.2012.183038

Pyatt, 2007, Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy, Clin Chem, 53, 1879, 10.1373/clinchem.2007.092312

Hahn, 2014, Population screening for Wilson’s disease, Ann N Y Acad Sci, 1315, 64, 10.1111/nyas.12423

Pasquali, 2014, Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency, J Inherit Metab Dis, 37, 231, 10.1007/s10545-013-9662-7

Therrell, 2012, Newborn dried blood spot screening: residual specimen storage issues, Pediatrics, 129, 365, 10.1542/peds.2011-3416

Caggana, 2013, Newborn screening: from Guthrie to whole genome sequencing, Public Health Rep, 128, S14, 10.1177/00333549131280S204

Rothwell, 2011, Concerns of newborn blood screening advisory committee members regarding storage and use of residual newborn screening blood spots, Am J Public Health, 101, 2111, 10.2105/AJPH.2010.200485

Therrell, 2011, Committee Report: considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening, Genet Med, 13, 621, 10.1097/GIM.0b013e3182147639

Botkin, 2012, Public attitudes regarding the use of residual newborn screening specimens for research, Pediatrics, 129, 231, 10.1542/peds.2011-0970

Bombard, 2012, Citizens’ values regarding research with stored samples from newborn screening in Canada, Pediatrics, 129, 239, 10.1542/peds.2011-2572

Langbo, 2013, From newborn screening to population health research: implementation of the Michigan BioTrust for health, Public Health Rep, 128, 377, 10.1177/003335491312800508

Botkin, 2014, Parental permission for pilot newborn screening research: guidelines from the NBSTRN, Pediatrics, 133, e410, 10.1542/peds.2013-2271

〈ccmg-ccgm.org/index.php/publications/practice-guidelines-position-statements-and-reports.html〉; Accessed 09.01.15.

Cross, 2013, Ontario newborns now screened for SCID, CMAJ, 185, E616, 10.1503/cmaj.109-4580

Mercimek-Mahmutoglu, 2012, Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease, Mol Genet Metab, 107, 433, 10.1016/j.ymgme.2012.07.022

Auray-Blais, 2007, Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules, J Inherit Metab Dis, 30, 515, 10.1007/s10545-007-0607-x

Auray-Blais, 2014, High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency, Clin Chim Acta, 25, 249, 10.1016/j.cca.2014.05.024

Khoo, 2011, Acquiring genome-wide gene expression profiles in Guthrie card blood spots using microarrays, Pathol Int, 61, 1, 10.1111/j.1440-1827.2010.02611.x

Bombard, 2014, Public views on participating in newborn screening using genome sequencing, Eur J Hum Genet, 22, 1248, 10.1038/ejhg.2014.22

Knoppers, 2014, Whole-genome sequencing in newborn screening programs, Sci Transl Med, 6, 229cm2, 10.1126/scitranslmed.3008494

Tahirovic, 2009, Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years’ experience, Eur J Pediatr, 168, 629, 10.1007/s00431-008-0801-3

Tezel, 2014, The development and organization of newborn screening programs in Turkey, J Clin Lab Anal, 28, 63, 10.1002/jcla.21645

Loeber, 2012, Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result, J Inher Metab Dis, 35, 603, 10.1007/s10545-012-9483-0

Burgard, 2012, Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2—From screening laboratory results to treatment, follow-up and quality assurance, J Inherit Metab Dis, 35, 613, 10.1007/s10545-012-9484-z

Cornel, 2014, Expert Opinion document Newborn screening in Europe. A framework to start the debate on neonatal screening policies in the EU, Eur J Hum Genet, 22, 12, 10.1038/ejhg.2013.90

Groselj, 2014, Newborn screening in southeastern Europe, Mol Genet Metab, 113, 42, 10.1016/j.ymgme.2014.07.020

Holmes, 2012, Europe plays catch-up on neonatal screening as US skips ahead, Nat Med, 18, 1596, 10.1038/nm1112-1596

Castellani, 2009, European best practice guidelines for cystic fibrosis neonatal screening, J Cyst Fibros, 8, 153, 10.1016/j.jcf.2009.01.004

Sermet-Gaudelus, 2010, Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening, J Cyst Fibros, 9, 323, 10.1016/j.jcf.2010.04.008

Mayell, 2009, A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis, J Cyst Fibros, 8, 71, 10.1016/j.jcf.2008.09.005

Léger, 2014, European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism, J Clin Endocrinol Metab, 99, 363, 10.1210/jc.2013-1891

Fischer, 2014, Funding decisions for newborn screening: a comparative review of 22 decision processes in Europe, Int J Environ Res Public Health, 11, 5403, 10.3390/ijerph110505403

Hom, 2014, U.S. international efforts on critical congenital heart disease screening: can we have a uniform recommendation for Europe?, Early Hum Dev, 90, S11, 10.1016/S0378-3782(14)50004-7

Petrini, 2012, Common criteria among States for storage and use of dried blood spot specimens after newborn screening, Ann Ist Super Sanita, 48, 119, 10.4415/ANN_12_02_03

Douglas, 2012, Governing biological material at the intersection of care and research: the use of dried blood spots for biobanking, Croat Med J, 53, 390, 10.3325/cmj.2012.53.390

Gauffin, 2009, Quantitation of RNA decay in dried blood spots during 20 years of storage, Clin Chem Lab Med, 47, 1467, 10.1515/CCLM.2009.351

Hollegaard, 2009, High-throughput genotyping on archived dried blood spot samples, Genet Test Mol Biomarkers, 13, 173, 10.1089/gtmb.2008.0073

Nicholls, 2012, Informed choice for newborn blood spot screening in the United Kingdom: a survey of parental perceptions, Pediatrics, 130, e1527, 10.1542/peds.2012-1479

Allen, 2013, Guthrie cards in Republic of Ireland. Irish public would prefer legislation to protect Guthrie card archive rather than destroy it, Br Med J, 347, f5232, 10.1136/bmj.f5232

Mechtler, 2012, Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria, Lancet, 379, 335, 10.1016/S0140-6736(11)61266-X

Paciotti, 2012, First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene, Clin Chim Acta, 413, 1827, 10.1016/j.cca.2012.07.011

Rigter, 2012, Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening, Mol Genet Metab, 107, 448, 10.1016/j.ymgme.2012.09.017

Audrain, 2014, Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study, Clin Immunol, 150, 137, 10.1016/j.clim.2013.11.012

Adams, 2014, Screening of neonatal UK dried blood spots using a duplex TREC screening assay, J Clin Immunol, 34, 323, 10.1007/s10875-014-0007-6

Olbrich, 2014, A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia, An Pediatr (Barc), 81, 310, 10.1016/j.anpedi.2014.08.002

la Marca, 2014, The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry, J Pharm Biomed Anal, 88, 201, 10.1016/j.jpba.2013.08.044

Tauriscio, 2007, Tackling rare diseases at European level: why do we need a harmonized framework?, Folia Med (Plovdiv), 49, 59

Shawky, 2012, Newborn screening in the Middle East and North Africa—challenges and recommendations, Hamdan Med J, 5, 191, 10.7707/hmj.v5i3.192

Krotoski, 2009, Conference report: second conference of the Middle East and North Africa newborn screening initiative: partnerships for sustainable newborn screening infrastructure and research opportunities, Genet Med, 11, 663, 10.1097/GIM.0b013e3181ab2277

Solanki, 2007, Training programmes for developing countries, J Inherit Metab Dis, 30, 596, 10.1007/s10545-007-0680-1

Fukushi, 2007, An international training and support programme for the establishment of neonatal screening in developing countries, J Inherit Metab Dis, 30, 593, 10.1007/s10545-007-0634-7

〈links.lww.com/GIM/A81〉; Accessed 04.01.15.

〈www.evaluategroup.com/Universal/View.aspx?type=Story&id=139887〉; Accessed 04.01.15.

Al-Alwani, 2012, Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry?, Ann Saudi Med, 32, 652, 10.5144/0256-4947.2012.26.5.1137

Shamshiri, 2012, Evaluation of current Guthrie TSH cut-off point in Iran congenital hypothyroidism screening program: a cost-effectiveness analysis, Arch Iran Med, 15, 136

Golbahar, 2010, Neonatal screening for congenital hypothyroidism: a retrospective hospital based study from Bahrain, J Pediatr Endocrinol Metab, 23, 39

Golbahar, 2013, Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain, Mol Genet Metab, 110, 98, 10.1016/j.ymgme.2013.07.006

Al Riyami, 2012, Detection of inborn errors of metabolism using tandem mass spectrometry among high-risk Omani patients, Oman Med J, 27, 482, 10.5001/omj.2012.115

Al Obaidy, 2013, Patterns of inborn errors of metabolism: a 12 year single-center hospital-based study in Libya, Qatar Med J, 2013, 57

Abdel-Hamid, 2007, Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti infants, Med Princ Pract, 16, 215, 10.1159/000100393

El-Hazmi, 2011, Sickle cell disease in Middle East Arab countries, Indian J Med Res, 134, 597, 10.4103/0971-5916.90984

Alkindi, 2010, Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates, Hemoglobin, 34, 135, 10.3109/03630261003677213

Hatam, 2013, Cost-utility analysis of neonatal screening program, Shiraz University of Medical Sciences, Shiraz, Iran, 2010, Iran J Pediatr, 23, 493

Sladkevicius, 2010, Cost effectiveness of establishing a neonatal screening programme for phenylketonuria in Libya, Appl Health Econ Health Policy, 8, 407, 10.2165/11535530-000000000-00000

Khneisser, 2007, Cost-benefit analysis of G6PD screening in Lebanese newborn males, J Med Liban, 55, 129

Al Hosani, 2014, Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011, East Mediterr Health J, 20, 17, 10.26719/2014.20.1.17

Al Arrayed, 2012, Newborn Screening Services in Bahrain between 1985 and 2010, Adv Hematol, 2012, 903219, 10.1155/2012/903219

Khneisser, 2008, International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes, J Inherit Metab Dis, 31, S441, 10.1007/s10545-008-1008-5

Lindner, 2007, Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg, J Inherit Metab Dis, 30, 522, 10.1007/s10545-007-0553-7

Somech, 2013, Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study, Isr Med Assoc J, 15, 404

Babiker, 2012, Overview of diagnosis, management and outcome of congenital hypothyroidism: a call for a national screening programme in Sudan, Sudanese J Pediatr, 12, 7

Sarafoglou, 2009, High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota, J Inherit Metab Dis, 32, S169, 10.1007/s10545-009-1135-7

Gerner de Garcia, 2011, Overview of newborn hearing screening activities in Latin America, Rev Panam Salud Publica, 29, 145

Frómeta, 2011, Quantitative ultramicrotest for newborn screening of galactosemia in Cuba, J Perinat Med, 39, 77, 10.1515/jpm.2010.135

González, 2009, Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test, Clin Chim Acta, 402, 129, 10.1016/j.cca.2008.12.039

González, 2008, An enzyme immunoassay for determining 17alpha-hydroxyprogesterone in dried blood spots on filter paper using an ultramicroanalytical system, Clin Chim Acta, 394, 63, 10.1016/j.cca.2008.04.004

Campos, 2014, Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots, Clin Chim Acta, 430, 24, 10.1016/j.cca.2013.12.035

Herrera, 2013, Ultramicro-fluorometric assay for the diagnosis of Gaucher disease in dried blood spots on filter paper, J Neonatal Perinatal Med, 6, 61, 10.3233/NPM-1364312

de Céspedes, 2004, Evolution and innovations of the National Neonatal and High Risk Screening Program in Costa Rica, Rev Biol Trop, 52, 451

Queiruga, 2011, Nacional de Pesquisa Neonatal en Uruguay, Mem Inst Investig Cienc, 9, 72

Borrajo, 2012, Panorama epidemiológico de la fenilcetonuria (PKU) en Latinoamérica, Acta Pediatr Mex, 33, 279

Queijo, 2009, Pilot Programe for newborn screening using mass spectrometry in Uruguay, Rev Invest Clín, 61, 90

Queijo, 2011, Newborn screening of medium-chain acyl-CoA dehydrogenase deficiency in Uruguay, Acta Bioquím Clín Latinoam, 45, 87

〈www.unisert.org.br/Informativo_PNTN_8%C2%AA_ed.pdf〉; Accessed 30.12.14.

Lopes, 2011, The successful “Guthrie test” celebrates its 10th birthday in Brazil!, Cien Saude Colet, 16, 716, 10.1590/S1413-81232011000700001

Maciel, 2013, Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism, Arq Bras Endocrinol Metabol, 57, 184, 10.1590/S0004-27302013000300004

Barone, 2013, Evaluation of TSH cutoff value in blood-spot samples in neonatal screening for the diagnosis of congenital hypothyroidism in the Programa “Primeiros Passos”—IEDE/RJ, Arq Bras Endocrinol Metabol, 57, 57, 10.1590/S0004-27302013000100008

Norma Oficial Mexicana NOM-034-SSA2-2013. Para la prevención y control de los defectos al nacimiento. 〈http://www.dof.gob.mx/nota_detalle.php?codigo=5349816&fecha=24/06/2014〉; Accessed 30.12.14.

González, 2007, Programa de pesquisa neonatal de hipotiroidismo congénito de la Provincia de Buenos Aires: 1.377.455 niños evaluados en diez años de experiencia, Arch Argent Pediatr, 105, 390

〈www.ins.gov.co/lineas-de-accion/Subdireccion-Vigilancia/sivigila/Protocolos%20SIVIGILA/PRO%20Defectos%20Congenitos.pdf〉; Accessed 30.12.14.

Ramírez, 2013, Tamizaje neonatal para hipotiroidismo congénito en Nicaragua, Nicaragua Pediatr, 1, 6

Padilla, 2012, Screening newborns in the Asia-Pacific Region, 764

Shi, 2012, Newborn screening for inborn errors of metabolism in mainland China: 30 years of experience, JIMD Rep, 6, 79, 10.1007/8904_2011_119

Zhan, 2009, Neonatal screening for congenital hypothyroidism and phenylketonuria in China, World J Pediatr, 5, 136, 10.1007/s12519-009-0027-0

Lim, 2014, Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization–tandem mass spectrometry (ESI/MS/MS): an 8 year journey from pilot to current program, Mol Genet Metab, 113, 53, 10.1016/j.ymgme.2014.07.018

Padilla, 2012, Enhancing case detection of selected inherited disorders through expanded newborn screening in the Philippines, Acta Med Philippina, 46, 24

Hettiarachchi, 2014, Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward, BMC Health Serv Res, 12, 385, 10.1186/1472-6963-14-385

Leong, 2014, Present status and future concerns of expanded newborn screening in malaysia: sustainability, challenges and perspectives, Malays J Med Sci, 21, 63

Yamaguchi, 2013, Expanded newborn mass screening with MS/MS and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in Japan, J Jap Soc Mass Screen, 23, 270

Morikawa, 2014, Results from 28 years of newborn screening for congenital adrenal hyperplasia in Sapporo, Clin Pediatr Endocrinol, 23, 35, 10.1297/cpe.23.35

Heather, 2015, Newborn screening for congenital adrenal hyperplasia in New Zealand 1994–2013, J Clin Endocrinol Metab, 100, 1002, 10.1210/jc.2014-3168

Kitagawa, 2012, Newborn screening for inborn errors of metabolism in Japan. A history of the development of newborn screening, Pediatr Endocrinol Rev, 10, 8

Chien, 2015, Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth, J Pediatr, 166, 985, 10.1016/j.jpeds.2014.10.068

Yang, 2014, A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment, Am J Med Genet A, 164A, 54, 10.1002/ajmg.a.36197

Chiang, 2012, Algorithm for Pompe disease newborn screening: results from the Taiwan screening program, Mol Genet Metab, 106, 281, 10.1016/j.ymgme.2012.04.013

Oda, 2011, Newborn screening for Pompe disease in Japan, Mol Genet Metab, 104, 560, 10.1016/j.ymgme.2011.09.002

Han, 2011, Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population, Korean J Lab Med, 31, 250, 10.3343/kjlm.2011.31.4.250

Liao, 2014, Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan, Clin Chim Acta, 431, 80, 10.1016/j.cca.2014.01.030

Hwu, 2014, Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases, Top Curr Chem, 336, 177, 10.1007/128_2012_354

Lin, 2013, A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan, Orphanet J Rare Dis, 8, 147, 10.1186/1750-1172-8-147

Wang, 2013, Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests, BMC Med Genet, 10, 24, 10.1186/1471-2350-14-24

Inoue, 2013, Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study, J Hum Genet, 58, 548, 10.1038/jhg.2013.48

Morinishi, 2009, Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards, J Pediatr, 155, 829, 10.1016/j.jpeds.2009.05.026

Inaba, 2014, Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots, Clin Chem, 60, 963, 10.1373/clinchem.2013.217331

Kim, 2008, Estimation of Wilson’s disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system, Genet Test, 12, 395, 10.1089/gte.2008.0016

Adayev, 2014, Fragile X protein in newborn dried blood spots, BMC Med Genet, 15, 119, 10.1186/s12881-014-0119-0

Charles, 2014, Implementation of written consent for newborn screening in Victoria, Australia, J Paediatr Child Health, 50, 399, 10.1111/jpc.12484

Maxwell, 2014, Newborn bloodspot screening: setting the Australian national policy agenda, Med J Aust, 200, 142, 10.5694/mja13.10974

Kapoor, 2013, National newborn screening program still a hype or a hope now?, Indian Pediatr, 50, 639, 10.1007/s13312-013-0187-9

Verma, 2015, Newborn screening: need of the hour in India, Indian J Pediatr, 82, 61, 10.1007/s12098-014-1615-0

Therrell BL, Padilla CD Barriers to implementing sustainable national newborn screening in developing health systems. Int J Pediatr Adolesc Med. 2014;2(1):49-60. 〈http://www.sciencedirect.com/science/article/pii/S2352646714000179〉; Accessed 20.04.15.

Padilla, 2012, Consolidating newborn screening efforts in the Asia Pacific region: networking and shared education, J Community Genet, 3, 35, 10.1007/s12687-011-0076-7

CLSI, 2013

CLSI, 2013

CLSI, 2009

CLSI, 2010

CLSI, 2011

CLSI, 2013

〈http://www.isns-neoscreening.org/〉; Accessed 14.01.15.