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Fuller, Maria
792  Ergebnisse:
Personensuche X
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1

Finding Fabry disease – where should we look?:

Fuller, Maria
Pathology.  56 (2024)  - p. S8-S9 , 2024
Link: https://doi.org/10.1016/..
 
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2

Second-tier glycosaminoglycan analysis in dried blood spots..:

Gelb, Michael H. ; Herbst, Zackary M. ; Fuller, Maria
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107836 , 2024
Link: https://doi.org/10.1016/..
 
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3

Current perspectives on serum cytokine testing in immunopat..:

Ferrante, Antonio ; Lao, Yunyu ; Perveen, Khalida...
Pathology.  56 (2024)  - p. S30 , 2024
Link: https://doi.org/10.1016/..
 
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4

A multiplex lipid platform improves the laboratory diagnosi..:

Fuller, Maria ; Saville, Jennifer T.
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107830 , 2024
Link: https://doi.org/10.1016/..
 
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5

Neurocognitive testing in a murine model of mucopolysacchar..:

Pericleous, Kleopatra ; McIntyre, Chantelle ; Fuller, Maria
Molecular Genetics and Metabolism Reports.  36 (2023)  - p. 100985 , 2023
Link: https://doi.org/10.1016/..
 
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6

GLA-modified RNA treatment lowers GB3 levels in iPSC-derive..:

ter Huurne, Menno ; Parker, Benjamin L. ; Liu, Ning Qing...
The American Journal of Human Genetics.  110 (2023)  9 - p. 1600-1605 , 2023
Link: https://doi.org/10.1016/..
 
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7

Newborn screening for the full set of mucopolysaccharidoses..:

Herbst, Zackary M. ; Hong, Xinying ; Sadilek, Martin..
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107698 , 2023
Link: https://doi.org/10.1016/..
 
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8

Spinal muscular atrophy-like phenotype in a mouse model of ..:

Nagree, Murtaza S. ; Rybova, Jitka ; Kleynerman, Annie...
Communications Biology.  6 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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9

Endogenous, non-reducing end glycosaminoglycan biomarkers f..:

Saville, Jennifer T. ; Herbst, Zackary M. ; Gelb, Michael H..
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107685 , 2023
Link: https://doi.org/10.1016/..
 
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10

Endogenous, non-reducing end glycosaminoglycan biomarkers a..:

Herbst, Zackary M. ; Hong, Xinying ; Urdaneta, Leslie...
Molecular Genetics and Metabolism.  140 (2023)  1-2 - p. 107632 , 2023
Link: https://doi.org/10.1016/..
 
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11

Signature biomarkers for diagnosis, screening, and biochemi..:

Fuller, Maria ; Saville, Jennifer ; Gelb, Michael H.
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107107 , 2023
Link: https://doi.org/10.1016/..
 
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12

Interim results of Transpher A, a multicenter, single-dose ..:

Flanigan, Kevin M. ; Smith, Nicholas ; Couce, Maria Luz...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107101 , 2023
Link: https://doi.org/10.1016/..
 
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13

Evaluation of Two Methods for Quantification of Glycosamino..:

Herbst, Zackary M. ; Urdaneta, Leslie ; Klein, Terri...
International Journal of Neonatal Screening.  8 (2022)  1 - p. 9 , 2022
Link: https://doi.org/10.3390/..
 
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14

Lyso-Gb3 as a biomarker for renal and cardiac involvement i..:

Ramaswami, Uma ; Altarescu, Gheona ; Fuller, Maria...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S103-S104 , 2022
Link: https://doi.org/10.1016/..
 
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15

Autologous, lentivirus‐modified, T‐rapa cell "micropharmaci..:

Nagree, Murtaza S ; Felizardo, Tania C ; Faber, Mary L...
EMBO Molecular Medicine.  14 (2022)  4 - p. , 2022
Link: https://doi.org/10.15252..
 
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