Detalhe da pesquisa
1.
Familial Hypercholesterolemia Biomarker Distribution in Dried Blood Spots.
J Pediatr
; 259: 113469, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37182660
2.
21-Deoxycortisol is a Key Screening Marker for 21-Hydroxylase Deficiency.
J Pediatr
; 242: 213-219.e1, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780778
3.
Single newborn screen or routine second screening for primary congenital hypothyroidism.
Mol Genet Metab
; 116(3): 125-32, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26293295
4.
Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.
Mol Genet Metab
; 116(3): 133-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26296712
5.
Effects of Soy Protein Isolate on Fragile X Phenotypes in Mice.
Nutrients
; 16(2)2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38257177
6.
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
Int J Neonatal Screen
; 8(1)2022 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225935
7.
Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy.
Int J Neonatal Screen
; 8(4)2022 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36412583
8.
Improving Reproducibility to Enhance Scientific Rigor through Consideration of Mouse Diet.
Animals (Basel)
; 12(24)2022 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36552368
9.
Analytical Validation of Familial Hypercholesterolemia Biomarkers in Dried Blood Spots.
Int J Neonatal Screen
; 8(1)2022 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225936
10.
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
Int J Neonatal Screen
; 6(3): 67, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33117906
11.
Neonatal Metabolic Crises: A Practical Approach.
Clin Perinatol
; 47(1): 155-170, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32000923
12.
Application of Principal Component Analysis to Newborn Screening for Congenital Adrenal Hyperplasia.
J Clin Endocrinol Metab
; 105(8)2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32525982
13.
Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials.
Int J Neonatal Screen
; 6(3): 75, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33123642
14.
Wisconsin's Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia.
Int J Neonatal Screen
; 5(3): 33, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072992
15.
Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.
Public Health Rep
; 134(2_suppl): 58S-63S, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31682555
16.
Long-term outcomes in Amish patients diagnosed with propionic acidemia.
Mol Genet Metab Rep
; 16: 36-38, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30013935
17.
Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria.
Mol Genet Metab Rep
; 6: 21-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27014575
18.
Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots.
Clin Chim Acta
; 436: 149-54, 2014 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886687
19.
Quantitative urine amino acid analysis using liquid chromatography tandem mass spectrometry and aTRAQ reagents.
J Chromatogr B Analyt Technol Biomed Life Sci
; 879(26): 2695-703, 2011 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21852206
20.
In vivo genetic selection of renal proximal tubules.
Mol Ther
; 13(1): 49-58, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16216560