Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 36

1.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB.

JIMD Rep. 2014;13:1-14. doi: 10.1007/8904_2013_262. Epub 2013 Nov 5.

PMID:
24190796
[PubMed]
Free PMC Article
2.

Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program.

Zytkovicz TH, Sahai I, Rush A, Odewale A, Johnson D, Fitzgerald E, Britton D, Eaton RB.

Clin Biochem. 2013 May;46(7-8):681-4. doi: 10.1016/j.clinbiochem.2013.02.002. Epub 2013 Feb 24.

PMID:
23462696
[PubMed - indexed for MEDLINE]
3.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
[PubMed - indexed for MEDLINE]
4.

The increased incidence of congenital hypothyroidism: fact or fancy?

Mitchell ML, Hsu HW, Sahai I; Massachusetts Pediatric Endocrine Work Group.

Clin Endocrinol (Oxf). 2011 Dec;75(6):806-10. doi: 10.1111/j.1365-2265.2011.04128.x.

PMID:
21623857
[PubMed - indexed for MEDLINE]
5.

Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India.

Sahai I, Zytkowicz T, Rao Kotthuri S, Lakshmi Kotthuri A, Eaton RB, Akella RR.

Indian J Pediatr. 2011 Aug;78(8):953-60. doi: 10.1007/s12098-011-0398-9. Epub 2011 Mar 17.

PMID:
21416125
[PubMed - indexed for MEDLINE]
6.

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England.

Sahai I, Eaton RB, Hale JE, Mulcahy EA, Comeau AM.

Genet Med. 2010 Dec;12(12 Suppl):S220-7. doi: 10.1097/GIM.0b013e3181fe5d37.

PMID:
21150368
[PubMed - indexed for MEDLINE]
7.

A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.

Sahai I, Bailey JC, Eaton RB, Zytkovicz T, Harris DJ.

J Pediatr. 2011 Jan;158(1):172; author reply 172-3. doi: 10.1016/j.jpeds.2010.09.026. Epub 2010 Nov 12. No abstract available.

PMID:
21074171
[PubMed - indexed for MEDLINE]
8.

Identification of an infant with severe combined immunodeficiency by newborn screening.

Hale JE, Bonilla FA, Pai SY, Gerstel-Thompson JL, Notarangelo LD, Eaton RB, Comeau AM.

J Allergy Clin Immunol. 2010 Nov;126(5):1073-4. doi: 10.1016/j.jaci.2010.08.043. Epub 2010 Oct 8. No abstract available.

PMID:
20933257
[PubMed - indexed for MEDLINE]
9.

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. Epub 2010 Jul 21.

PMID:
20660142
[PubMed - indexed for MEDLINE]
Free Article
10.

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.

Comeau AM, Hale JE, Pai SY, Bonilla FA, Notarangelo LD, Pasternack MS, Meissner HC, Cooper ER, DeMaria A, Sahai I, Eaton RB.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S273-81. doi: 10.1007/s10545-010-9103-9. Epub 2010 May 20.

PMID:
20490925
[PubMed - indexed for MEDLINE]
11.

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.

Hsu HW, Zytkovicz TH, Comeau AM, Strauss AW, Marsden D, Shih VE, Grady GF, Eaton RB.

Pediatrics. 2008 May;121(5):e1108-14. doi: 10.1542/peds.2007-1993.

PMID:
18450854
[PubMed - indexed for MEDLINE]
Free Article
12.

Communications systems and their models: Massachusetts parent compliance with recommended specialty care after positive cystic fibrosis newborn screening result.

Comeau AM, Parad R, Gerstle R, O'Sullivan BP, Dorkin HL, Dovey M, Haver K, Martin T, Eaton RB.

J Pediatr. 2005 Sep;147(3 Suppl):S98-100.

PMID:
16202793
[PubMed - indexed for MEDLINE]
13.

Challenges in implementing a successful newborn cystic fibrosis screening program.

Comeau AM, Parad R, Gerstle R, O'Sullivan BP, Dorkin HL, Dovey M, Haver K, Martin T, Eaton RB.

J Pediatr. 2005 Sep;147(3 Suppl):S89-93. Review.

PMID:
16202791
[PubMed - indexed for MEDLINE]
14.

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB.

Pediatrics. 2004 Jun;113(6):1573-81.

PMID:
15173476
[PubMed - indexed for MEDLINE]
15.

Integration of new genetic diseases into statewide newborn screening: New England experience.

Comeau AM, Larson C, Eaton RB.

Am J Med Genet C Semin Med Genet. 2004 Feb 15;125C(1):35-41.

PMID:
14755432
[PubMed - indexed for MEDLINE]
16.

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL.

JAMA. 2003 Nov 19;290(19):2564-72.

PMID:
14625333
[PubMed - indexed for MEDLINE]
17.

Newborn screening: new developments in a proven field.

Eaton RB, Comeau AM, Zytkovicz TH, Larson C.

Clin Lab Sci. 2002 Fall;15(4):239-44. No abstract available.

PMID:
12776784
[PubMed - indexed for MEDLINE]
18.

Successes of newborn screening programs.

Comeau AM, Eaton RB.

Science. 2002 Jan 4;295(5552):44-5. No abstract available.

PMID:
11780647
[PubMed - indexed for MEDLINE]
19.

Epidemiology of congenital toxoplasmosis identified by population-based newborn screening in Massachusetts.

Jara M, Hsu HW, Eaton RB, Demaria A Jr.

Pediatr Infect Dis J. 2001 Dec;20(12):1132-5.

PMID:
11740319
[PubMed - indexed for MEDLINE]
20.

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.

Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF.

Clin Chem. 2001 Nov;47(11):1945-55.

PMID:
11673361
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk