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1 . Academic Journal
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
저자
by
Adang, Laura A.
;
Bonkowsky, Joshua L.
;
Boelens, Jaap Jan
;
Mallack, Eric
;
Ahrens-Nicklas, Rebecca
, et al.
소스
In
Cytotherapy
March 2024
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7 . Academic Journal
The Brain Gene Registry: a data snapshot.
저자
by
Baldridge, Dustin
;
Kaster, Levi
;
Sancimino, Catherine
;
Srivastava, Siddharth
;
Molholm, Sophie
, et al.
소스
Journal of Neurodevelopmental Disorders; 4/17/2024, Vol. 16 Issue 1, p1-14, 14p
Open Access (BioMed Central)
Scopus
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7 . Academic Journal
Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials
저자
by
Lachmann, Robin
;
Ganesh, Jaya
;
Giugliani, Roberto
;
Guffon, Nathalie
;
Mengel, Eugen
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
Impact of homozygous p.Arg610del genotype on disease burden and treatment response in adults with acid sphingomyelinase deficiency in the ASCEND trial of olipudase alfa
저자
by
Wasserstein, Melissa
;
Kumar, Monica
;
Armstrong, Nicole
;
Cil, Sefika Uslu
;
Firoozan, Arya
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial
저자
by
Wasserstein, Melissa
;
Bonella, Francesco
;
Giugliani, Roberto
;
Lachmann, Robin
;
Noth, Imre
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
Collaborative research efforts drive therapeutic advancements for free sialic acid storage disorder (FSASD)
저자
by
Malicdan, May Christine
;
Adams, David R.
;
Brooks, P.J.
;
Dobrenis, Konstantin
;
Gahl, William A.
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
P874: Parental perspectives and experiences on the implications of expanded and universal newborn screening
저자
by
Paleologos, Katrina
;
Kelly, Nicole
;
Clarke, Megan
;
Goldenberg, Aaron
;
Wasserstein, Melissa
.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P500: Optimizing consent: An analysis of recruitment data for the first 11,000 consented ScreenPlus parents
저자
by
Kelly, Nicole
;
Paleologos, Katrina
;
Clarke, Megan
;
Wasserstein, Melissa
.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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6 . Academic Journal
Using team-based precision medicine to advance understanding of rare genetic brain disorders.
저자
by
Walkley, Steven U.
;
Molholm, Sophie
;
Jordan, Bryen
;
Marion, Robert W.
;
Wasserstein, Melissa
.
소스
Journal of Neurodevelopmental Disorders; 3/15/2024, Vol. 16 Issue 1, p1-13, 13p
Open Access (BioMed Central)
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7 . Academic Journal
P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
저자
by
Wasserstein, Melissa
;
Giugliani, Roberto
;
Jones, Simon
;
Lachmann, Robin
;
Scarpa, Maurizio
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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