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Pollard, Laura
599  Ergebnisse:
Personensuche X
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1

Parallel biochemical and genetic testing informs a timely a..:

Miller, Vanessa Rangel ; Daugherty, Sean ; Gupta, Rupal N....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108015 , 2024
Link: https://doi.org/10.1016/..
 
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2

O39: The ClinGen Lysosomal Diseases Variant Curation Expert..:

Goldstein, Jenny ; Waddell, Amber ; Aschoff, Carlos...
Genetics in Medicine Open.  2 (2024)  - p. 100877 , 2024
Link: https://doi.org/10.1016/..
 
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3

Collaborative research efforts drive therapeutic advancemen..:

Malicdan, May Christine ; Adams, David R. ; Brooks, P.J....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107948 , 2024
Link: https://doi.org/10.1016/..
 
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4

Sensitivity and specificity of serum oligosaccharide analys..:

Kubaski, Francyne ; Cason, Allison ; Pollard, Laura
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107921 , 2024
Link: https://doi.org/10.1016/..
 
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5

Advancing free sialic acid storage (FSASD) disorder disease..:

Sabir, Marya S. ; Jovanovic, Vukasin M. ; Pollard, Laura...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108023 , 2024
Link: https://doi.org/10.1016/..
 
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6

Biomarkers of Glycosaminoglycans (GAG) accumulation in pati..:

Sohn, Young Bae ; Wang, Raymond ; Ashworth, Jane...
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101041 , 2024
Link: https://doi.org/10.1016/..
 
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7

Sensitivity and specificity of four lysosomal disorder biom..:

Kubaski, Francyne ; Butler, Grant ; Pollard, Laura
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107187 , 2023
Link: https://doi.org/10.1016/..
 
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8

A concerted action to explore therapies for free sialic aci..:

Huizing, Marjan ; Walkley, Steven U. ; Wasserstein, Melissa...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107160 , 2023
Link: https://doi.org/10.1016/..
 
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9

Multiplex tandem mass spectrometry enzymatic activity assay..:

Hong, Xinying ; Pollard, Laura ; He, Miao..
Molecular Genetics and Metabolism Reports.  35 (2023)  - p. 100978 , 2023
Link: https://doi.org/10.1016/..
 
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10

P001: Single center experience with the Massachusetts State..:

Grassie, Christina ; Siddharth, Aishwarya ; Michl, Emma...
Genetics in Medicine Open.  1 (2023)  1 - p. 100011 , 2023
Link: https://doi.org/10.1016/..
 
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11

Base editing corrects the common Salla disease SLC17A5 c.11..:

Harb, Jerry F. ; Christensen, Chloe L. ; Kan, Shih-Hsin...
Molecular Therapy - Nucleic Acids.  34 (2023)  - p. 102022 , 2023
Link: https://doi.org/10.1016/..
 
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12

Functional characterization of IDUA variants identified by ..:

Steet, Richard ; Yu, Seok-Ho ; Hallman, Jenna..
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107325 , 2023
Link: https://doi.org/10.1016/..
 
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13

O01: Outcomes of newborn screening for mucopolysaccharidosi..:

Siddharth, Aishwarya ; Grassie, Christina ; Michl, Emma...
Genetics in Medicine Open.  1 (2023)  1 - p. 100002 , 2023
Link: https://doi.org/10.1016/..
 
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14

RNA analysis of the GALNS transcript reveals novel pathogen..:

Sohn, Young Bae ; Rogers, Curtis ; Stallworth, Jennifer...
Molecular Genetics and Metabolism Reports.  31 (2022)  - p. 100875 , 2022
Link: https://doi.org/10.1016/..
 
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15

A 3-year pilot screening program for lysosomal disorders in..:

Al-Hertani, Walla ; Bodamer, Olaf A. ; Merglesberg, Holly..
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S16-S17 , 2022
Link: https://doi.org/10.1016/..
 
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