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Laboratory monitoring of patients with hereditary tyrosinemia type I.
Mol Genet Metab. 2020 Aug;130(4):247-254. doi: 10.1016/j.ymgme.2020.06.001. Epub 2020 Jun 6.
Mol Genet Metab. 2020.
PMID: 32546364
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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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: pino gb.
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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Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.
Merritt JL 2nd, Brody LL, Pino G, Rinaldo P.
Merritt JL 2nd, et al.
Mol Genet Metab. 2018 Jun;124(2):109-113. doi: 10.1016/j.ymgme.2018.04.006. Epub 2018 Apr 20.
Mol Genet Metab. 2018.
PMID: 29703588
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The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism.
Gavrilov DK, Piazza AL, Pino G, Turgeon C, Matern D, Oglesbee D, Raymond K, Tortorelli S, Rinaldo P.
Gavrilov DK, et al.
Int J Neonatal Screen. 2020 Apr 10;6(2):33. doi: 10.3390/ijns6020033. eCollection 2020 Jun.
Int J Neonatal Screen. 2020.
PMID: 33073028
Free PMC 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.
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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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J,…
See abstract for full author list ➔
McHugh D, et al. Among authors: pino gb.
Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.
Genet Med. 2011.
PMID: 21325949
Free article.
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