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Year | Number of Results |
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2020 | 3 |
2021 | 1 |
2024 | 0 |
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Page 1
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.
JIMD Rep. 2020 Nov 20;58(1):21-28. doi: 10.1002/jmd2.12188. eCollection 2021 Mar.
JIMD Rep. 2020.
PMID: 33728243
Free PMC article.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D.
Guenzel AJ, et al. Among authors: studinski al.
Genet Med. 2020 Jun;22(6):1108-1118. doi: 10.1038/s41436-020-0764-y. Epub 2020 Feb 24.
Genet Med. 2020.
PMID: 32089546
Free article.
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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P, Tortorelli S.
Peck DS, et al. Among authors: studinski al.
Int J Neonatal Screen. 2020 Feb 7;6(1):10. doi: 10.3390/ijns6010010. eCollection 2020 Mar.
Int J Neonatal Screen. 2020.
PMID: 33073008
Free PMC article.
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