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1 . Academic Journal
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency
저자
by
Laura Ohl
;
Amanda Kuhs
;
Ryan Pluck
;
Emily Durham
;
Michael Noji
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101091- (2024)
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7 . Academic Journal
Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing
저자
by
Dominique L. Brooks
;
Manuel J. Carrasco
;
Ping Qu
;
William H. Peranteau
;
Rebecca C. Ahrens-Nicklas
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines
저자
by
Stephen J. Staklinski
;
Mario C. Chang
;
Rebecca C. Ahrens‐Nicklas
;
Shagun Kaur
;
Arianna K. Stefanatos
, et al.
소스
JIMD Reports, Vol 64, Iss 2, Pp 167-179 (2023)
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7 . Academic Journal
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
저자
by
Andrew J. Degnan
;
Victor M. Ho-Fung
;
Rebecca C. Ahrens-Nicklas
;
Christian A. Barrera
;
Suraj D. Serai
, et al.
소스
Insights into Imaging, Vol 10, Iss 1, Pp 1-19 (2019)
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7 . Academic Journal
Postnatal Arx transcriptional activity regulates functional properties of PV interneurons
저자
by
Donald J. Joseph
;
Markus Von Deimling
;
Yuiko Hasegawa
;
Ana G. Cristancho
;
Rebecca C. Ahrens-Nicklas
, et al.
소스
iScience, Vol 24, Iss 1, Pp 101999- (2021)
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7 . Academic Journal
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
저자
by
Jessica R. C. Priestley
;
Laura A. Adang
;
Sarah Drewes Williams
;
Uta Lichter-Konecki
;
Caitlin Menello
, et al.
소스
International Journal of Neonatal Screening, Vol 8, Iss 2, p 24 (2022)
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7 . Academic Journal
Newborn Screening for Pompe Disease: Pennsylvania Experience
저자
by
Can Ficicioglu
;
Rebecca C. Ahrens-Nicklas
;
Joshua Barch
;
Sanmati R. Cuddapah
;
Brenda S. DiBoscio
, et al.
소스
International Journal of Neonatal Screening, Vol 6, Iss 4, p 89 (2020)
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7 . Academic Journal
Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders
저자
by
Jing Xu
;
Youseff Jakher
;
Rebecca C. Ahrens-Nicklas
.
소스
International Journal of Molecular Sciences, Vol 21, Iss 20, p 7490 (2020)
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5 . Academic Journal
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
저자
by
Lars Schlotawa
;
Laura A. Adang
;
Karthikeyan Radhakrishnan
;
Rebecca C. Ahrens-Nicklas
.
소스
International Journal of Molecular Sciences, Vol 21, Iss 10, p 3448 (2020)
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6 . Academic Journal
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening
저자
by
Jessica R. C. Priestley
;
Hana Alharbi
;
Katharine Press Callahan
;
Herodes Guzman
;
Irma Payan-Walters
, et al.
소스
International Journal of Neonatal Screening, Vol 6, Iss 2, p 39 (2020)
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