Detalhe da pesquisa
1.
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Mol Genet Metab
; 142(1): 108455, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531184
2.
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Am J Med Genet A
; 191(6): 1492-1501, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36883293
3.
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
Mol Genet Metab
; 129(1): 20-25, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813752
4.
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Genet Med
; 20(8): 840-846, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095812
5.
Identification of Decreased Butyrylcholinesterase in Sudden Infant Death Syndrome Is, at Best, a First Step Toward Preventive Screening.
Clin Chem
; 69(2): 116-117, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36327422
6.
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Mol Genet Metab
; 124(1): 82-86, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29550355
7.
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
Mol Genet Metab
; 123(4): 428-432, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29510902
8.
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Genet Med
; 19(1): 77-82, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27308838
9.
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
Clin Chem
; 61(5): 760-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759465
10.
Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.
Genet Med
; 16(12): 889-95, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24875301
11.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
Mol Genet Metab
; 113(4): 274-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25454677
12.
Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.
Int J Neonatal Screen
; 10(1)2024 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38390974
13.
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
Int J Neonatal Screen
; 10(1)2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535128
14.
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.
Int J Neonatal Screen
; 9(4)2023 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873844
15.
Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study.
Ann Med Surg (Lond)
; 82: 104651, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36268324
16.
Mitigating the Impact of Reemergence From a Pandemic on Healthcare.
Mil Med
; 186(9-10): 259-262, 2021 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273169
17.
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
JIMD Rep
; 60(1): 67-74, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258142
18.
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.
Int J Neonatal Screen
; 7(2)2021 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33922835
19.
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement.
Int J Neonatal Screen
; 6(1): 20, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073017
20.
Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.
Int J Neonatal Screen
; 6(4)2020 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239602