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Results: 1 to 20 of 26

1.

Infant with cardiomyopathy: When to suspect inborn errors of metabolism?

Byers SL, Ficicioglu C.

World J Cardiol. 2014 Nov 26;6(11):1149-55. doi: 10.4330/wjc.v6.i11.1149. Review.

PMID:
25429327
[PubMed]
Free PMC Article
2.

m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.

Mori M, Mytinger JR, Martin LC, Bartholomew D, Hickey S.

JIMD Rep. 2014;17:47-51. doi: 10.1007/8904_2014_332. Epub 2014 Sep 21.

PMID:
25240982
[PubMed]
Free PMC Article
3.

Newborn screening for fragile X syndrome.

Tassone F.

JAMA Neurol. 2014 Mar;71(3):355-9. doi: 10.1001/jamaneurol.2013.4808. Review.

PMID:
24395328
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Newborn screening: from Guthrie to whole genome sequencing.

Caggana M, Jones EA, Shahied SI, Tanksley S, Hermerath CA, Lubin IM.

Public Health Rep. 2013 Sep-Oct;128 Suppl 2:14-9. No abstract available.

PMID:
23997299
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.

Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM.

J Allergy Clin Immunol. 2013 Jul;132(1):140-50. doi: 10.1016/j.jaci.2013.04.024.

PMID:
23810098
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Matern D, Oglesbee D, Tortorelli S.

Dev Disabil Res Rev. 2013 Jun;17(3):247-53. doi: 10.1002/ddrr.1117. Review.

PMID:
23798012
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Clinical genomic database.

Solomon BD, Nguyen AD, Bear KA, Wolfsberg TG.

Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9851-5. doi: 10.1073/pnas.1302575110. Epub 2013 May 21.

PMID:
23696674
[PubMed - indexed for MEDLINE]
Free PMC Article
8.
9.

Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients.

Al Riyami S, Al Maney M, Joshi SN, Bayoumi R.

Oman Med J. 2012 Nov;27(6):482-5. doi: 10.5001/omj.2012.115.

PMID:
23226820
[PubMed]
Free PMC Article
10.

Applying Genomic Analysis to Newborn Screening.

Solomon BD, Pineda-Alvarez DE, Bear KA, Mullikin JC, Evans JP; NISC Comparative Sequencing Program.

Mol Syndromol. 2012 Aug;3(2):59-67. Epub 2012 Jul 25.

PMID:
23112750
[PubMed]
Free PMC Article
11.

Factors associated with knowledge of and satisfaction with newborn screening education: a survey of mothers.

Araia MH, Wilson BJ, Chakraborty P, Gall K, Honeywell C, Milburn J, Ramsay T, Potter BK.

Genet Med. 2012 Dec;14(12):963-70. doi: 10.1038/gim.2012.87. Epub 2012 Aug 16.

PMID:
22899093
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example.

Camp KM, Lloyd-Puryear MA, Huntington KL.

Mol Genet Metab. 2012 Sep;107(1-2):3-9. doi: 10.1016/j.ymgme.2012.07.005. Epub 2012 Jul 16. Review.

PMID:
22854513
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Direct and quantitative analysis of underivatized acylcarnitines in serum and whole blood using paper spray mass spectrometry.

Yang Q, Manicke NE, Wang H, Petucci C, Cooks RG, Ouyang Z.

Anal Bioanal Chem. 2012 Sep;404(5):1389-97. doi: 10.1007/s00216-012-6211-4. Epub 2012 Jul 4.

PMID:
22760507
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Neonatal cholestasis: opportunities to increase early detection.

Palermo JJ, Joerger S, Turmelle Y, Putnam P, Garbutt J.

Acad Pediatr. 2012 Jul-Aug;12(4):283-7. doi: 10.1016/j.acap.2012.03.021. Epub 2012 May 26.

PMID:
22634076
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Next-generation community genetics for low- and middle-income countries.

Kingsmore SF, Lantos JD, Dinwiddie DL, Miller NA, Soden SE, Farrow EG, Saunders CJ.

Genome Med. 2012 Mar 29;4(3):25. doi: 10.1186/gm324. eCollection 2012.

PMID:
22458566
[PubMed]
Free PMC Article
16.

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ.

Expert Rev Mol Diagn. 2011 Nov;11(8):855-68. doi: 10.1586/erm.11.70. Review.

PMID:
22022947
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

State laws regarding the retention and use of residual newborn screening blood samples.

Lewis MH, Goldenberg A, Anderson R, Rothwell E, Botkin J.

Pediatrics. 2011 Apr;127(4):703-12. doi: 10.1542/peds.2010-1468. Epub 2011 Mar 28.

PMID:
21444595
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program.

Baker MW, Laessig RH, Katcher ML, Routes JM, Grossman WJ, Verbsky J, Kurtycz DF, Brokopp CD.

Public Health Rep. 2010 May-Jun;125 Suppl 2:88-95.

PMID:
20518449
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PMID:
20466091
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Founder mutations in xeroderma pigmentosum.

Tamura D, DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2010 Jun;130(6):1491-3. doi: 10.1038/jid.2010.76.

PMID:
20463673
[PubMed - indexed for MEDLINE]
Free PMC Article

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