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1 . Academic Journal
Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): 15-Year Follow-Up From the Survey Study
저자
by
Quartel, Adrian
;
Harmatz, Paul R.
;
Lampe, Christina
;
Guffon, Nathalie
;
Ketteridge, David
, et al.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2018 6
Open Access (SciELO)
Scopus
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7 . Academic Journal
Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa (Human Recombinant Alpha Mannosidase)
저자
by
Borgwardt, Line
;
Guffon, Nathalie
;
Amraoui, Yasmina
;
Jones, Simon A.
;
Meirleir, Linda De
, et al.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2018 6
Open Access (SciELO)
Scopus
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7 . Academic Journal
Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks: MOR-008: A Randomized, Double-Blind, Pilot Study
저자
by
Treadwell, Marsha
;
Harmatz, Paul R.
;
Burton, Barbara K.
;
Mitchell, John J.
;
Muschol, Nicole
, et al.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2017 5
Open Access (SciELO)
Scopus
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7 . Academic Journal
Obstructive Sleep Apnea in MPS: A Systematic Review of Pretreatment and Posttreatment Prevalence and Severity
저자
by
Pal, Abhijit Ricky
;
Brown, Nailah
;
Jones, Simon A.
;
Bigger, Brian W.
;
Bruce, Iain A.
.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2015 3
Open Access (SciELO)
Scopus
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7 . Academic Journal
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment
저자
by
WU, Teresa H.Y.
;
Brown, Heather A.
;
Church, Heather J.
;
Kershaw, Christopher J.
;
Hutton, Rebekah
, et al.
소스
In
Molecular Genetics and Metabolism
May 2024 142(1)
Full Text (ScienceDirect)
Web of Science
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7 . Academic Journal
Variables affecting outcomes after allogeneic hematopoietic stem cell transplant for cerebral adrenoleukodystrophy
저자
by
Chiesa, Robert
;
Boelens, Jaap Jan
;
Duncan, Christine N.
;
Kühl, Jörn-Sven
;
Sevin, Caroline
, et al.
소스
In
Blood Advances
8 March 2022 6(5):1512-1524
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7 . Academic Journal
Assessing the influence of patient language preference on 30 day hospital readmission risk from home health care: A retrospective analysis
저자
by
Squires, Allison
;
Ma, Chenjuan
;
Miner, Sarah
;
Feldman, Penny
;
Jacobs, Elizabeth A.
, et al.
소스
In
International Journal of Nursing Studies
January 2022 125
Full Text (ScienceDirect)
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7 . Academic Journal
Patient Experience With Notification of Radiology Results: A Comparison of Direct Communication and Patient Portal Use
저자
by
Garry, Kira
;
Blecker, Saul
;
Saag, Harry
;
Szerencsy, Adam
;
Jones, Simon A.
, et al.
소스
In
Journal of the American College of Radiology
September 2020 17(9):1130-1138
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7 . Academic Journal
Design of a multi-center randomized active controlled phase 3 clinical trial (HURCULES) evaluating the safety and efficacy of OTL-203 in patients with MPS IH versus standard of care with allogeneic hematopoietic stem cell transplantation
저자
by
Orchard, Paul J.
;
Wynn, Robert F.
;
Kharbanda, Sandhya
;
Ahrens-Nicklas, Rebecca
;
van Hasselt, Peter M.
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
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7 . Academic Journal
Interim analysis of a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II
저자
by
Muenzer, Joseph
;
Burton, Barbara K.
;
Harmatz, Paul
;
Rajan, Deepa
;
Jones, Simon A.
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
Full Text (ScienceDirect)
Web of Science
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