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1 . Academic Journal
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies
저자
by
Yang, Huiya
;
Brown, Robert H., Jr
;
Wang, Dan
;
Strauss, Kevin A.
;
Gao, Guangping
.
소스
In
Trends in Molecular Medicine
June 2021 27(6):520-523
Full Text (Clinical Key)
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Web of Science
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7 . Academic Journal
Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency
저자
by
Aoki, Kazuhiro
;
Heaps, Adam D.
;
Strauss, Kevin A.
;
Tiemeyer, Michael
.
소스
In
Clinical Mass Spectrometry
November 2019 14 Part B:106-114
Full Text (ScienceDirect)
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Scopus
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6 . Academic Journal
Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy.
저자
by
Matesanz, Susan E.
;
Brigatti, Karlla W.
;
Young, Millie
;
Yum, Sabrina W.
;
Strauss, Kevin A.
.
소스
Annals of Clinical & Translational Neurology
. Jul2024, Vol. 11 Issue 7, p1868-1878. 11p.
Open Access (Wiley)
Web of Science
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7 . Academic Journal
Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia
저자
by
Chowdhury, Devyani
;
Williams, Katie B.
;
Chidekel, Aaron
;
Pizarro, Christian
;
Preedy, Catherine
, et al.
소스
In
The Journal of Pediatrics
December 2017 191:145-151
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7 . Academic Journal
WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy.
저자
by
Strauss, Kevin A.
;
Carson, Vincent J.
;
Bolettieri, Emilienne
;
Everett, Mariah
;
Bollinger, Ashton
, et al.
소스
Annals of Clinical & Translational Neurology
. Nov2023, Vol. 10 Issue 11, p1972-1984. 13p.
Open Access (Wiley)
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7 . Academic Journal
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
저자
by
Lynch, Megan T.
;
Maloney, Kristin A.
;
Pollin, Toni I.
;
Streeten, Elizabeth A.
;
Puffenberger, Erik G.
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2022, Vol. 188 Issue 7, p2119-2128, 10p
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7 . Academic Journal
Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids
저자
by
Kalsner, Louisa R.
;
Rohr, Frances J.
;
Strauss, Kevin A.
;
Korson, Mark S.
;
Levy, Harvey L.
.
소스
In
The Journal of Pediatrics
September 2001 139(3):421-427
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7 . Periodical
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2at risk for spinal muscular atrophy: the Phase III SPR1NT trial
저자
by
Strauss, Kevin A.
;
Farrar, Michelle A.
;
Muntoni, Francesco
;
Saito, Kayoko
;
Mendell, Jerry R.
, et al.
소스
Nature Medicine; July 2022, Vol. 28 Issue: 7 p1390-1397, 8p
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7 . Periodical
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
저자
by
Strauss, Kevin A.
;
Farrar, Michelle A.
;
Muntoni, Francesco
;
Saito, Kayoko
;
Mendell, Jerry R.
, et al.
소스
Nature Medicine; July 2022, Vol. 28 Issue: 7 p1381-1389, 9p
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7 . Academic Journal
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
저자
by
Williams, Katie B.
;
Horst, Michael
;
Young, Millie
;
Pascua, Christine
;
Puffenberger, Erik G.
, et al.
소스
BMC Cardiovascular Disorders; 3/17/2022, Vol. 22 Issue 1, p1-10, 10p
Open Access (BioMed Central)
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