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136 CRIBADO NEONATAL<br />

24. Crossley JR, Elliott RB, Smith PA. Dried-blood<br />

spot screening for cystic <strong>fibro</strong>sis in the newborn.<br />

Lancet. 1979;1(8114):472-4.<br />

25. Munck A, Dhondt JL, Sahler C, Roussey M.<br />

Implementation of the French nationwide<br />

cystic <strong>fibro</strong>sis newborn screening program. J<br />

Pediatr. 2008;153 (2):228-33.<br />

26. Massie J, Clements B; Australian Paediatric<br />

Respiratory Group. Diagnosis of cystic <strong>fibro</strong>sis<br />

after newborn screening: the Australasian<br />

experience--twenty years and five million<br />

babies later: a consensus statement from the<br />

Australasian Paediatric Respiratory Group.<br />

Pediatr Pulmonol. 2005;39(5):440-6.<br />

27. Korzeniewski SJ, Young WI, Hawkins HC, Cavanagh<br />

K, Nasr SZ, Langbo C, et al. Variation<br />

in immunoreactive trypsinogen concentrations<br />

among Michigan newborns and implications<br />

for cystic <strong>fibro</strong>sis newborn screening.<br />

Pediatr Pulmonol. 2011;46(2):125-30.<br />

28. Castellani C, Benetazzo MG, Bonizzato A,<br />

Pignatti PF, Mastella G. Cystic <strong>fibro</strong>sis mutations<br />

in heterozygous newborns with hypertrypsinemia<br />

and low sweat chloride. Am J<br />

Hum Genet. 1999;64(1):303-4.<br />

29. Scotet V, Assael BM, Duguépéroux I, Tamanini<br />

A, Audrézet MP, Férec C, et al. Time trends<br />

in birth incidence of cystic <strong>fibro</strong>sis in two European<br />

areas: data from newborn screening<br />

programs. J Pediatr. 2008;152(1):25-32.<br />

30. Yamaguchi A, Nepote JA, Kadivar M, Tagami Y,<br />

Fukushi M, Kikuchi Y, et al. Allele specific PCR<br />

with microfluorometry: application to the detection<br />

of del F508 mutation in cystic <strong>fibro</strong>sis.<br />

Clin Chim Acta. 2002;316(1-2):147-54.<br />

31. Dequeker E, Cuppens H, Dodge J, Estivill X,<br />

Goossens M, Pignatti PF, et al. Recommendations<br />

for quality improvement in genetic<br />

testing for cystic <strong>fibro</strong>sis. European Concerted<br />

Action on Cystic Fibrosis. Eur J Hum Genet.<br />

2000;8 Suppl 2:S2-24.<br />

32. Dequeker E, Stuhrmann M, Morris MA; Casals<br />

T, Castellani C, Claustres M, et al. Best<br />

practice guidelines for molecular genetic<br />

diagnosis of cystic <strong>fibro</strong>sis and CFTR-related<br />

disorders updated European recommendations.<br />

Eur J Hum Gen. 2009;17(1): 51-65.<br />

33. Sarles J, Berthézène P, Le Louarn C, Somma<br />

C, Perini JM, Catheline M, et al. Combining<br />

immunoreactive trypsinogen and<br />

pancreatitis-associated protein assays, a<br />

method of newborn screening for cystic <strong>fibro</strong>sis<br />

that avoids DNA analysis. J Pediatr.<br />

2005;147(3):302-5.<br />

34. Stopsack M, Hammermann J. Improved cut<br />

off combination for IRT and PAP in Newborn<br />

Screening for Cystic Fibrosis. Clin Biochem.<br />

2011;44(7):545.<br />

35. Sommerburg O, Lindner M, Muckenthaler<br />

M, Kohlmueller D, Leible S, Feneberg R, et<br />

al. Initial evaluation of a biochemical cystic<br />

<strong>fibro</strong>sis newborn screening by sequential<br />

analysis of immunoreactive trypsinogen<br />

and pancreatitis-associated protein (IRT/<br />

PAP) as a strategy that does not involve<br />

DNA testing in a northern european population.<br />

J Inherit Metab Dis. 2010;33(Suppl<br />

2):S263-71.<br />

36. Casals T, Ramos MD, Gimenez J, Larriba<br />

S, Nunes V, Estivill X. High heterogeneity<br />

for CF in Spanish families: 75% account<br />

for 90% of chromosoms. Hum Genet.<br />

1997;101(3):365-70.<br />

37. Castellani C, Southern KW, Brownlee K,<br />

Dankert Roelse J, Duff A, Farrell M, et al.<br />

European best practice guidelines for cystic<br />

<strong>fibro</strong>sis neonatal screening. J Cyst Fibros.<br />

2009;8(3):153-73.<br />

38. Borowitz D, Parad R, Sharp JK, Sabadosa<br />

KA, Robinson KA, Rock MJ et al. Cystic Fibrosis<br />

Foundation: Practice guidelines for<br />

the management of infants with cystic <strong>fibro</strong>sis<br />

transmembrane conductance regulator-related<br />

metabolic syndrome during the<br />

first two years of life and beyond. J Pediatr.<br />

2009;155(6 Suppl):S106-16.<br />

39. Sontag MK, Wright D, Beebe J, Accurso FJ,<br />

Sagel SD. A new cystic <strong>fibro</strong>sis newborn<br />

screening algorithm: IRT/IRT1↑/DNA. J Pediatr.<br />

2009;155(5):618-22.<br />

40. De Boeck K, Wilschanski M, Castellani C, Taylor<br />

C, Cuppens H, Dodge J, et al. Cystic <strong>fibro</strong>sis:<br />

terminology and diagnostic algorithms.<br />

Thorax. 2006;61(7):627-35.<br />

41. Mayell SJ, Munck A, Craig JV, Sermet I,<br />

Brownlee KG, Schwarz MJ, et al. A European<br />

consensus for the evaluation and<br />

management of infants with an equivocal<br />

diagnosis following newborn screening<br />

for cystic <strong>fibro</strong>sis. J Cyst Fibros.<br />

2009;8(1):71-8.<br />

42. Gomez Lira M, Benetazzo MG, Marzari MG,<br />

Bombieri C, Belpinati F, Castellani C, et al.<br />

High frequency of cystic <strong>fibro</strong>sis transmembrane<br />

regulator mutation L997F in patients<br />

with recurrent idiopathic pancreatitis and in<br />

newborns with hypertrypsinemia. Am J Hum<br />

Genet. 2000;66(6):2013-4.<br />

43. Castellani C, Massie J. Emerging issues in<br />

cystic <strong>fibro</strong>sis newborn screening. Curr Opin<br />

Pulm Med. 2010;16(6):584-90.<br />

44. Barrio Gómez de Agüero MI, García<br />

Hernández G, Gartner S; Grupo de Trabajo de<br />

Fibrosis Quística. Protocolo de diagnostico y<br />

seguimiento de los pacientes con <strong>fibro</strong>sis <strong>quistica</strong>.<br />

An Pediatr (Barc). 2009;71(3):250-64.<br />

45. Sermet-Gaudelus I, Mayell SJ, Southern<br />

KW; European Cystic Finrosis Society<br />

(ECFS), Neonatal Screening Working Group.<br />

Guidelines on the early management of<br />

infants diagnosed with cystic <strong>fibro</strong>sis following<br />

newborn screening. J Cyst Fibros.<br />

2010;9(5):323-9.<br />

46. Stafler P, Davies JC, Balfour-Lynn IM, Rosenthal<br />

M, Bush A. Bronchoscopy in cystic <strong>fibro</strong>sis<br />

infants diagnosed by newborn screening.<br />

Pediatr Pulmonol. 2011;46(7):696-700.<br />

47. Gartner S, Casals T, Marin JL, Seculi JL,<br />

Asensio O, Hernandez JL et al. Neonatal<br />

screening in Cataluña: 10 years of experience.<br />

J Cyst Fibros. 2010:9 (Suppl 1):S9.<br />

48. Dodge JA. Why screen for cystic <strong>fibro</strong>sis?<br />

A clinician’s view. Acta Paediatr. 1999;<br />

88(432):28-32.

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