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PubPharm (572)
1
Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis
enthalten in:
Clinical chemistry
| 2024
von
Wongkittichote, P.
|
Cho, S.
|
Miller, A.
| +5
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2
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide
enthalten in:
Molecular genetics and metabolism
| 2024
von
Bekri, S.
|
Bley, A.
|
Brown, H.
| +12
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3
Biochemical signatures of disease severity in multiple sulfatase deficiency
enthalten in:
Journal of inherited metabolic disease
| 2024
von
Adang, L.
|
Mowafy, S.
|
Herbst, Z.
| +13
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4
It's time to reconsider the newborn screening RUSP prospective pilot study "N of 1" rule
enthalten in:
Molecular genetics and metabolism
| 2024
von
Gelb, M.
|
Matern, D.
|
Ellinwood, M.
| +1
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5
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
enthalten in:
Molecular genetics and metabolism
| 2024
von
Pham, V.
|
Sertori Finoti, L.
|
Cassidy, M.
| +12
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6
Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots
enthalten in:
Molecular genetics and metabolism
| 2024
von
Liu, Y.
|
Gelb, M.
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7
ScreenPlus : A comprehensive, multi-disorder newborn screening program
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Kelly, N.
|
Orsini, J.
|
Goldenberg, A.
| +16
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8
Biochemical signatures of disease severity in multiple sulfatase deficiency
enthalten in:
Journal of Inherited Metabolic Disease
| 2024
von
Adang, L.
|
Mowafy, S.
|
Herbst, Z.
| +13
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9
Failure to apply standard limit-of-detection or limit-of-quantitation criteria to specialized pro-resolving mediator analysis incorrectly characterizes their presence in biological samples
enthalten in:
Nature communications
| 2023
von
O'Donnell, V.
|
Schebb, N.
|
Milne, G.
| +12
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10
Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses : Accurate diagnosis and elimination of false positive newborn screening results
enthalten in:
Molecular genetics and metabolism
| 2023
von
Saville, J.
|
Herbst, Z.
|
Gelb, M.
| +1
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50
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34
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26
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23
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27YG812J1I
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