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Page 1
Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency.
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
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. Among authors: moloney s.
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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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.
Ames EG, Scott AJ, Pappas KB, Moloney SM, Conway RL, Ahmad A.
Ames EG, et al. Among authors: moloney sm.
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.
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