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A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
Am J Med Genet A. 2020 Nov;182(11):2704-2708. doi: 10.1002/ajmg.a.61815. Epub 2020 Aug 20.
Am J Med Genet A. 2020.
PMID: 32820583
Free article.
Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency.
Hartog N, Hershfield M, Michniacki T, Moloney S, Holsworth A, Hurden I, Fredrickson M, Kleyn M, Walkovich K, Secord E.
Hartog N, et al.
Ann Allergy Asthma Immunol. 2022 Dec;129(6):776-783.e2. doi: 10.1016/j.anai.2022.07.016. Epub 2022 Jul 30.
Ann Allergy Asthma Immunol. 2022.
PMID: 35914665
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Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.
Dorley MC, Dizikes GJ, Pickens CA, Cuthbert C, Basheeruddin K, Gulamali-Majid F, Hetterich P, Hietala A, Kelsey A, Klug T, Lesko B, Mills M, Moloney S, Neogi P, Orsini J, Singer D, Petritis K.
Dorley MC, et al.
Int J Neonatal Screen. 2023 Feb 27;9(1):11. doi: 10.3390/ijns9010011.
Int J Neonatal Screen. 2023.
PMID: 36975849
Free PMC article.
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Clinical Effectiveness of Dual Nicotine Replacement Therapy in Planned Hospital Admissions to an Epilepsy Monitoring Unit: An Irish Perspective.
McGinty RN, Goulding DM, McCarthy MJ, Moloney SM, Costello DJ, Plant BJ.
McGinty RN, et al. Among authors: moloney sm.
Nicotine Tob Res. 2018 Apr 2;20(5):656-658. doi: 10.1093/ntr/ntx029.
Nicotine Tob Res. 2018.
PMID: 28182246
No abstract available.
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