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Khaja Basheeruddin

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Articles 11
Citations 168
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Recent Articles
1.
Herbst Z, Kubaski F, Pollard L, Basheeruddin K, Burton B, Orsini J, et al.
Mol Genet Metab . 2024 Dec; 144(2):108612. PMID: 39645522
Measurement of enzymatic activity in newborn dried blood spots (DBS) is the preferred first-tier method in newborn screening (NBS) for mucopolysaccharidosis (MPS) disorders. However, false positives are observed due mainly...
2.
Matern D, Basheeruddin K, Klug T, McKee G, Edge P, Hall P, et al.
Int J Neonatal Screen . 2024 Feb; 10(1). PMID: 38390974
Krabbe disease (KD) is part of newborn screening (NBS) in 11 states with at least one additional state preparing to screen. In July 2021, KD was re-nominated for addition to...
3.
Dorley M, Dizikes G, Pickens C, Cuthbert C, Basheeruddin K, Gulamali-Majid F, et al.
Int J Neonatal Screen . 2023 Mar; 9(1). PMID: 36975849
In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed...
4.
Burton B, Shively V, Quadri A, Warn L, Burton J, Grange D, et al.
Mol Genet Metab . 2023 Mar; 140(1-2):107557. PMID: 36907694
We describe our experience with population-based newborn screening for mucopolysaccharidosis type II (MPS II) in 586,323 infants by measurement of iduronate-2-sulfatase activity in dried blood spots between December 12, 2017...
5.
Gelb M, Basheeruddin K, Burlina A, Chen H, Chien Y, Dizikes G, et al.
Int J Neonatal Screen . 2022 Dec; 8(4). PMID: 36547379
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS)....
6.
Herbst Z, Urdaneta L, Klein T, Burton B, Basheeruddin K, Liao H, et al.
Int J Neonatal Screen . 2022 Feb; 8(1). PMID: 35225932
All newborn screening (NBS) for mucopolysaccharidosis-I and -II (MPS-I and MPS-II) is carried out via the measurement of α-iduronidase (IDUA) and iduronate-2-sulfatase (IDS) enzymatic activity, respectively, in dried blood spots...
7.
Burton B, Hickey R, Hitchins L, Shively V, Ehrhardt J, Ashbaugh L, et al.
Int J Neonatal Screen . 2022 Jan; 8(1). PMID: 35076462
X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected. Approximately one-third of affected males develop childhood...
8.
Basheeruddin K, Shao R, Balster F, Gardley P, Ashbaugh L
Int J Neonatal Screen . 2021 Jun; 7(2). PMID: 34065072
Population-based newborn screening for Krabbe disease was initiated by measurement of galactocerebrosidase (GALC) activity in the state of Illinois in December 2017. Due to the poor specificity of GALC for...
9.
Burton B, Charrow J, Hoganson G, Fleischer J, Grange D, Braddock S, et al.
Int J Neonatal Screen . 2020 Oct; 6(1):4. PMID: 33073003
Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen...
10.
Burton B, Hoganson G, Fleischer J, Grange D, Braddock S, Hickey R, et al.
J Pediatr . 2019 Sep; 214:165-167.e1. PMID: 31477379
Objectives: To assess the outcome of population-based newborn screening for mucopolysaccharidosis type II (MPS II) during the first year of screening in Illinois. Study Design: Tandem mass spectrometry was used...