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1 . Academic Journal
Tracer metabolomics reveals the role of aldose reductase in glycosylation
저자
by
Radenkovic, Silvia
;
Ligezka, Anna N.
;
Mokashi, Sneha S.
;
Driesen, Karen
;
Dukes-Rimsky, Lynn
, et al.
소스
In
Cell Reports Medicine
20 June 2023 4(6)
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7 . Academic Journal
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations
저자
by
Sanders, Karen
;
Peck, Dawn
;
Bentz Pino, Gisele
;
Studinski Jones, April
;
White, Amy
, et al.
소스
In
Molecular Genetics and Metabolism
May 2024 142(1)
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7 . Academic Journal
Blending Strategic Expertise and Technology: A Case Study for Practice Analysis.
저자
by
Belwalkar, Bharati B.
;
Schultz, Matthew
;
Curnow, Christina
;
Setzer, J. Carl
.
소스
Educational Measurement: Issues & Practice
. May2024, p1. 10p. 2 Illustrations, 8 Charts.
Web of Science
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6 . Academic Journal
P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation
저자
by
Stander, Zinandre
;
Laxen, William
;
Loken, Perry
;
White, Amy
;
Hall, Patricia
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*
저자
by
Pantovich, Iris
;
White, Amy
;
Studinski, April
;
Mu, Weiyi
;
Kaas, Bonnie
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy*
저자
by
White, Amy
;
Bontrager, Jordan
;
Laxen, William
;
Loken, Perry
;
Grider, Tiffany
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics
저자
by
Wurth, Rachel
;
Turgeon, Coleman
;
Stander, Zinandre
;
Matern, Dietrich
;
White, Amy
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Periodical
Halsey's Trials.
저자
by
Schultz, Matthew
.
소스
Marine Corps Gazette; May2024, Vol. 108 Issue 5, p60-65, 6p
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3 . Academic Journal
IDENTIFYING A MADD-LIKE BIOCHEMICAL IMPOSTER BETTER KNOWN AS FLAVIN ADENINE DINUCLEOTIDE SYNTHASE DEFICIENCY: A RETROSPECTIVE CLIR APPROACH
저자
by
Stander, Zinandré
;
Ammous, Zineb
;
Werker, Joanne
;
Miller, Marcus
;
Sapp, Katherine
, et al.
소스
In
Molecular Genetics and Metabolism
March 2023 138(3)
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7 . Academic Journal
GLUCOSYLSPHINGOSINE AS AN AID TO THE IDENTIFICATION OF NEWBORNS WITH GAUCHER DISEASE
저자
by
Pino, Gisele
;
Peck, Dawn
;
Studinski, April
;
White, Amy
;
Gavrilov, Dimitar
, et al.
소스
In
Molecular Genetics and Metabolism
March 2023 138(3)
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