Detalhe da pesquisa
1.
Glycan-based biomarkers for mucopolysaccharidoses.
Mol Genet Metab
; 111(2): 73-83, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23958290
2.
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Mol Genet Metab
; 111(4): 484-92, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24503138
3.
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
J Allergy Clin Immunol
; 132(1): 140-50, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810098
4.
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
JAMA
; 312(7): 729-38, 2014 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138334
5.
Newborn screening for SCID identifies patients with ataxia telangiectasia.
J Clin Immunol
; 33(3): 540-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23264026
6.
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
Mol Genet Metab
; 110(4): 477-83, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24103308
7.
A pilot study using residual newborn dried blood spots to assess the potential role of cytomegalovirus and Toxoplasma gondii in the etiology of congenital hydrocephalus.
Birth Defects Res A Clin Mol Teratol
; 97(7): 431-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716471
8.
Birth prevalence of disorders detectable through newborn screening by race/ethnicity.
Genet Med
; 14(11): 937-45, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22766612
9.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Genet Med
; 14(7): 648-55, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22766634
10.
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
Mol Genet Metab
; 106(4): 485-7, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22698809
11.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Mol Genet Metab
; 106(1): 55-61, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22424739
12.
Integrated and first trimester prenatal screening in California: program implementation and patient choice for follow-up services.
Prenat Diagn
; 32(11): 1077-83, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903386
13.
The California Prenatal Screening Program: "options and choices" not "coercion and eugenics".
Genet Med
; 13(8): 711-3, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21753732
14.
Detection rate of quadruple-marker screening determined by clinical follow-up and registry data in the statewide California program, July 2007 to February 2009.
Prenat Diagn
; 31(9): 901-6, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21706514
15.
The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findings.
Genet Med
; 12(12 Suppl): S242-50, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21150370
16.
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
J Pediatr
; 157(2): 271-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20394947
17.
Ancillary benefits of prenatal maternal serum screening achieved in the California program.
Prenat Diagn
; 30(10): 981-7, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20730796
18.
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Int J Neonatal Screen
; 6(2)2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32802993
19.
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
Mol Genet Metab
; 97(3): 212-20, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19423374
20.
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
J Pediatr
; 155(6): 924-7, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19914430