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1.
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
Am J Med Genet C Semin Med Genet
; 190(2): 178-186, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36097743
2.
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes.
Am J Med Genet C Semin Med Genet
; 190(2): 187-196, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36164257
3.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
J Inherit Metab Dis
; 45(6): 1106-1117, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36093991
4.
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
Mol Genet Metab
; 134(1-2): 20-28, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34602357
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31813752
6.
Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature.
Genet Med
; 21(12): 2683-2685, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31160755
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25454677
8.
An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges.
Indian J Hum Genet
; 19(4): 483-6, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24497719
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33073017
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33239602
11.
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
Int J Neonatal Screen
; 6(1)2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-32064362
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