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1.
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.
Am J Med Genet C Semin Med Genet;
193(1): 44-55, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36876995
2.
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.
Am J Med Genet C Semin Med Genet;
193(1): 30-43, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36738469
3.
VUS: Variant of uncertain significance or very unclear situation?
Mol Genet Metab;
140(1-2): 107678, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37574344
4.
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Mol Genet Metab;
134(1-2): 53-59, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33832819
5.
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
J Inherit Metab Dis;
44(3): 728-739, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33373467
6.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med;
22(6): 1108-1118, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32089546
7.
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
Genet Med;
21(7): 1644-1651, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30546085
8.
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genet Med;
21(3): 631-640, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30093709
9.
Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
Mol Genet Metab;
126(2): 183-187, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30172462
10.
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Genet Med;
20(8): 840-846, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29095812
11.
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.
Clin Chem;
63(8): 1363-1369, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28592445
12.
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Clin Chem;
63(4): 842-851, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28196920
13.
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.
Mol Genet Metab;
122(4): 209-215, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29089175
14.
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Mol Genet Metab;
122(3): 134-139, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28739201
15.
Newborn screening for Krabbe's disease.
J Neurosci Res;
94(11): 1063-75, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27638592
16.
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
J Neurosci Res;
94(11): 1076-83, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27638593
17.
Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?
J Neurosci Res;
94(11): 1084-93, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27638594
18.
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Genet Med;
18(12): 1235-1243, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27171547
19.
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Genet Med;
18(3): 239-48, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26795590
20.
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.
J Inherit Metab Dis;
38(5): 923-9, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25762404