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Items: 1 to 20 of 305

1.

The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

la Marca G, Giocaliere E, Malvagia S, Funghini S, Ombrone D, Della Bona ML, Canessa C, Lippi F, Romano F, Guerrini R, Resti M, Azzari C.

J Pharm Biomed Anal. 2014 Jan;88:201-6. doi: 10.1016/j.jpba.2013.08.044. Epub 2013 Sep 8.

PMID:
24076575
2.

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C.

J Allergy Clin Immunol. 2013 Jun;131(6):1604-10. doi: 10.1016/j.jaci.2012.08.054. Epub 2012 Dec 30.

PMID:
23280131
3.

Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry.

Azzari C, la Marca G, Resti M.

J Allergy Clin Immunol. 2011 Jun;127(6):1394-9. doi: 10.1016/j.jaci.2011.03.040.

PMID:
21624616
4.

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, Moriondo M, Valleriani C, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N, Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C.

J Allergy Clin Immunol. 2014 Jul;134(1):155-9. doi: 10.1016/j.jaci.2014.01.040. Epub 2014 Apr 24.

PMID:
24767876
5.

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D.

Mol Genet Metab. 2006 May;88(1):16-21. Epub 2006 Jan 31.

PMID:
16448836
7.

Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation.

Seo JY, Park HD, Kim JW, Oh HJ, Yang JS, Chang YS, Park WS, Lee SY.

J Perinat Med. 2014 Jan;42(1):121-7. doi: 10.1515/jpm-2013-0154.

PMID:
23989111
8.

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.

Somech R, Lev A, Simon AJ, Korn D, Garty BZ, Amariglio N, Rechavi G, Almashanu S, Zlotogora J, Etzioni A.

Isr Med Assoc J. 2013 Aug;15(8):404-9.

9.

Development of a routine newborn screening protocol for severe combined immunodeficiency.

Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, Cogley MF, Litsheim TJ, Katcher ML, Routes JM.

J Allergy Clin Immunol. 2009 Sep;124(3):522-7. doi: 10.1016/j.jaci.2009.04.007. Epub 2009 May 31.

PMID:
19482345
10.

Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID).

Chan B, Wara D, Bastian J, Hershfield MS, Bohnsack J, Azen CG, Parkman R, Weinberg K, Kohn DB.

Clin Immunol. 2005 Nov;117(2):133-43. Epub 2005 Aug 22.

PMID:
16112907
11.

Development of population-based newborn screening for severe combined immunodeficiency.

Chan K, Puck JM.

J Allergy Clin Immunol. 2005 Feb;115(2):391-8.

PMID:
15696101
12.

Mass spectrometry in clinical chemistry: the case of newborn screening.

la Marca G.

J Pharm Biomed Anal. 2014 Dec;101:174-82. doi: 10.1016/j.jpba.2014.03.047. Epub 2014 Apr 28. Review.

PMID:
24844843
13.

Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.

van Kuilenburg AB, Zoetekouw L, Meijer J, Kuijpers TW.

Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):461-5. doi: 10.1080/15257771003741406.

PMID:
20544538
14.

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, Kaneda Y, Taga T, Hisakawa H, Miyaji R, Endo M, Oh-Ishi T, Kamachi Y, Akahane K, Kobayashi C, Tsuchida M, Morio T, Sasahara Y, Kumaki S, Ishigaki K, Yoshida M, Urabe T, Kobayashi N, Okimoto Y, Reichenbach J, Hashii Y, Tsuji Y, Kogawa K, Yamaguchi S, Kanegane H, Miyawaki T, Yamada M, Ariga T, Nonoyama S.

J Pediatr. 2009 Dec;155(6):829-33. doi: 10.1016/j.jpeds.2009.05.026. Epub 2009 Jul 22.

PMID:
19628217
15.

Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID).

Kühl JS, Schwarz K, Münch A, Schmugge M, Pekrun A, Meisel C, Wahn V, Ebell W, von Bernuth H.

Klin Padiatr. 2011 Mar;223(2):85-9. doi: 10.1055/s-0030-1269916. Epub 2011 Jan 26.

PMID:
21271505
16.

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests.

la Marca G, Malvagia S, Casetta B, Pasquini E, Donati MA, Zammarchi E.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S395-404. doi: 10.1007/s10545-008-0965-z. Epub 2008 Oct 27.

PMID:
18956250
17.

How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID).

Kohn DB, Gaspar HB.

J Clin Immunol. 2017 May;37(4):351-356. doi: 10.1007/s10875-017-0373-y. Epub 2017 Feb 14. Review.

PMID:
28194615
18.

Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants.

Sarafoglou K, Gaviglio A, Hietala A, Frogner G, Banks K, McCann M, Thomas W.

J Pediatr. 2014 May;164(5):1136-40. doi: 10.1016/j.jpeds.2014.01.038. Epub 2014 Feb 28.

PMID:
24582106
19.

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).

Tagliaferri L, Kunz JB, Happich M, Esposito S, Bruckner T, Hübschmann D, Okun JG, Hoffmann GF, Schulz A, Kappe J, Speckmann C, Muckenthaler MU, Kulozik AE.

Clin Immunol. 2017 Feb;175:51-55. doi: 10.1016/j.clim.2016.11.016. Epub 2016 Dec 2.

PMID:
27916705
20.

A quantitative method for acylcarnitines and amino acids using high resolution chromatography and tandem mass spectrometry in newborn screening dried blood spot analysis.

Miller JH 4th, Poston PA, Karnes HT.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Aug 15;903:142-9. doi: 10.1016/j.jchromb.2012.07.008. Epub 2012 Jul 20.

PMID:
22846691

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