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Items: 1 to 20 of 186

1.

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.

PMID:
23280131
2.

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.

PMID:
24076575
3.

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.

PMID:
24767876
4.

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
5.

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.

PMID:
19482345
6.

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.

PMID:
21271505
7.

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.

Ariga T, Oda N, Sanstisteban I, Arredondo-Vega FX, Shioda M, Ueno H, Terada K, Kobayashi K, Hershfield MS, Sakiyama Y.

J Immunol. 2001 Feb 1;166(3):1698-702.

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.

Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning.

Otsu M, Yamada M, Nakajima S, Kida M, Maeyama Y, Hatano N, Toita N, Takezaki S, Okura Y, Kobayashi R, Matsumoto Y, Tatsuzawa O, Tsuchida F, Kato S, Kitagawa M, Mineno J, Hershfield MS, Bali P, Candotti F, Onodera M, Kawamura N, Sakiyama Y, Ariga T.

J Clin Immunol. 2015 May;35(4):384-98. doi: 10.1007/s10875-015-0157-1.

PMID:
25875699
10.

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
11.

Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.

Nikolajeva O, Worth A, Hague R, Martinez-Alier N, Smart J, Adams S, Davies EG, Gaspar HB.

J Clin Immunol. 2015 May;35(4):366-72. doi: 10.1007/s10875-015-0158-0. Erratum in: J Clin Immunol. 2016 May;36(4):413.

PMID:
25875700
12.

Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases.

Jilkina O, Thompson JR, Kwan L, Van Caeseele P, Rockman-Greenberg C, Schroeder ML.

Mol Genet Metab Rep. 2014 Aug 7;1:324-333.

13.

Defining combined immunodeficiency.

Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E.

J Allergy Clin Immunol. 2012 Jul;130(1):177-83. doi: 10.1016/j.jaci.2012.04.029.

PMID:
22664165
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.

PMID:
19628217
15.

Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency.

Booth C, Algar VE, Xu-Bayford J, Fairbanks L, Owens C, Gaspar HB.

J Clin Immunol. 2012 Jun;32(3):449-53. doi: 10.1007/s10875-012-9658-3.

PMID:
22350222
16.

Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme.

Hirschhorn R, Roegner V, Jenkins T, Seaman C, Piomelli S, Borkowsky W.

J Clin Invest. 1979 Oct;64(4):1130-9.

17.

High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening.

Gerstel-Thompson JL, Wilkey JF, Baptiste JC, Navas JS, Pai SY, Pass KA, Eaton RB, Comeau AM.

Clin Chem. 2010 Sep;56(9):1466-74. doi: 10.1373/clinchem.2010.144915.

18.

Rejection of bone marrow transplant and resistance of alloantigen reactive cells to in vivo deoxyadenosine in adenosine deaminase deficiency.

Cowan MJ, Shannon KM, Wara DW, Ammann AJ.

Clin Immunol Immunopathol. 1988 Nov;49(2):242-50.

PMID:
2971490
19.

Adenosine deaminase deficiency.

Hirschhorn R.

Immunodefic Rev. 1990;2(3):175-98. Review.

PMID:
2078332
20.

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