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Wasserstein, Melissa
129
results:
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1
Consensus guidelines for the monitoring and management of m..:
Adang, Laura A.
;
Bonkowsky, Joshua L.
;
Boelens, Jaap Jan
...
Cytotherapy. 26 (2024) 7 - p. 739-748 , 2024
Link:
https://doi.org/10.1016/..
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2
Impact of homozygous p.Arg610del genotype on disease burden..:
Wasserstein, Melissa
;
Kumar, Monica
;
Armstrong, Nicole
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108076 , 2024
Link:
https://doi.org/10.1016/..
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3
The Brain Gene Registry: a data snapshot:
Baldridge, Dustin
;
Kaster, Levi
;
Sancimino, Catherine
...
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
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4
P874: Parental perspectives and experiences on the implicat..:
Paleologos, Katrina
;
Kelly, Nicole
;
Clarke, Megan
..
Genetics in Medicine Open. 2 (2024) - p. 101788 , 2024
Link:
https://doi.org/10.1016/..
?
5
Improvements in liver and lipid outcomes continue in childr..:
Lachmann, Robin
;
Ganesh, Jaya
;
Giugliani, Roberto
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107927 , 2024
Link:
https://doi.org/10.1016/..
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6
P500: Optimizing consent: An analysis of recruitment data f..:
Kelly, Nicole
;
Paleologos, Katrina
;
Clarke, Megan
.
Genetics in Medicine Open. 2 (2024) - p. 101399 , 2024
Link:
https://doi.org/10.1016/..
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7
Olipudase alfa enzyme replacement therapy reverses intersti..:
Wasserstein, Melissa
;
Bonella, Francesco
;
Giugliani, Roberto
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108075 , 2024
Link:
https://doi.org/10.1016/..
?
8
Using team-based precision medicine to advance understandin..:
Walkley, Steven U.
;
Molholm, Sophie
;
Jordan, Bryen
..
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
9
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/..
?
10
P349: Plasma lyso-sphingomyelin, biomarker for acid sphingo..:
Wasserstein, Melissa
;
Giugliani, Roberto
;
Jones, Simon
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100377 , 2023
Link:
https://doi.org/10.1016/..
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11
P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMEN..:
Villarrubia, Jesus
;
Ganesh, Jaya
;
Giugliani, Roberto
...
HemaSphere. 7 (2023) S3 - p. e18031f6 , 2023
Link:
https://doi.org/10.1097/..
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12
Are we prepared to deliver gene‐targeted therapies for rare..:
Yu, Timothy W.
;
Kingsmore, Stephen F.
;
Green, Robert C.
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 1 - p. 7-12 , 2023
Link:
https://doi.org/10.1002/..
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13
Consensus clinical management guidelines for acid sphingomy..:
Geberhiwot, Tarekegn
;
Wasserstein, Melissa
;
Wanninayake, Subadra
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
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14
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/..
?
15
P318: Impact of genetic counseling using GUÍA on diverse fa..:
Suckiel, Sabrina
;
Kelly, Nicole
;
Odgis, Jacqueline
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100346 , 2023
Link:
https://doi.org/10.1016/..
1-15