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False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency.
JIMD Rep. 2017;36:1-5. doi: 10.1007/8904_2016_34. Epub 2017 Jan 12.
JIMD Rep. 2017.
PMID: 28078493
Free PMC article.
Autism in patients with propionic acidemia.
Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B, Andersson H, Vannieuwenborg L, Geuens S, Baumgartner M, Kozicz T, Settles L, Morava E.
Witters P, et al. Among authors: crivelly k.
Mol Genet Metab. 2016 Dec;119(4):317-321. doi: 10.1016/j.ymgme.2016.10.009. Epub 2016 Oct 31.
Mol Genet Metab. 2016.
PMID: 27825584
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Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E.
Wong SY, et al. Among authors: crivelly k.
Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15.
Genet Med. 2017.
PMID: 28617415
Free PMC article.
Clinical Trial.
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Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.
Adams D, Andersson HC, Bausell H, Crivelly K, Eggerding C, Lah M, Lilienstein J, Lindstrom K, McNutt M, Ray JW, Saavedra H, Sacharow S, Starin D, Tiffany-Amaro J, Thomas J, Vucko E, Wessenberg LB, Whitehall K.
Adams D, et al. Among authors: crivelly k.
Mol Genet Metab Rep. 2021 Aug 14;28:100790. doi: 10.1016/j.ymgmr.2021.100790. eCollection 2021 Sep.
Mol Genet Metab Rep. 2021.
PMID: 34430209
Free PMC article.
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Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.
Upadia J, Crivelly K, Noh G, Cunningham A, Cerminaro C, Li Y, Mckoin M, Chenevert M, Andersson HC.
Upadia J, et al. Among authors: crivelly k.
Mol Genet Metab Rep. 2024 Jan 12;38:101050. doi: 10.1016/j.ymgmr.2024.101050. eCollection 2024 Mar.
Mol Genet Metab Rep. 2024.
PMID: 38469087
Free PMC article.
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