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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.
A new D-galactose treatment monitoring index for PGM1-CDG.
Perales-Clemente E, Liedtke K, Studinski A, Radenkovic S, Gavrilov D, Oglesbee D, Matern D, Rinaldo P, Tortorelli S, Morava E, Raymond K.
Perales-Clemente E, et al.
J Inherit Metab Dis. 2021 Sep;44(5):1263-1271. doi: 10.1002/jimd.12406. Epub 2021 Jun 22.
J Inherit Metab Dis. 2021.
PMID: 34043239
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Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Pino G, Conboy E, Tortorelli S, Minnich S, Nickander K, Lacey J, Peck D, Studinski A, White A, Gavrilov D, Rinaldo P, Matern D, Oglesbee D, Giugliani R, Burin M, Raymond K.
Pino G, et al.
Mol Genet Metab. 2020 Feb;129(2):106-110. doi: 10.1016/j.ymgme.2019.10.009. Epub 2019 Nov 5.
Mol Genet Metab. 2020.
PMID: 31753749
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Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation.
Rinaldo P, Studinski AL, Matern D.
Rinaldo P, et al. Among authors: studinski al.
Prenat Diagn. 2001 Jan;21(1):52-4. doi: 10.1002/1097-0223(200101)21:1<52::aid-pd973>3.0.co;2-h.
Prenat Diagn. 2001.
PMID: 11180241
Review.
No abstract available.
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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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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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