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1 . Academic Journal
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)
저자
by
Starosta, Rodrigo Tzovenos
;
Lee, Angela J.
;
Toolan, Elizabeth R.
;
He, Miao
;
Wongkittichote, Parith
, et al.
소스
In
Molecular Genetics and Metabolism
June 2024 142(2)
Full Text (ScienceDirect)
Web of Science
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7 . Academic Journal
Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemia
저자
by
Lee, Angela
;
Eldem, Irem
;
Altintas, Burak
;
Nguyen, Hoanh
;
Willis, Daniel
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023 139(3)
Full Text (ScienceDirect)
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7 . Academic Journal
P363: A novel case of Coffin-Siris syndrome due to duplication in 6q25.3
저자
by
Tu, Shao Ching
;
Nguyen, Hoanh
;
AbiSamra, Freddy-May
.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
Full Text (ScienceDirect)
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5 . Academic Journal
SEVERE PRPS1 DEFICIENCY AND RESPONSE TO S-ADENOSYLMETHIONINE AND NICOTINAMIDE RIBOSIDE SUPPLEMENTATION
저자
by
Lee, Angela
;
Knox, Renatta
;
Reynolds, Margaret
;
Hediger, Erin
;
Nguyen, Hoanh
.
소스
In
Molecular Genetics and Metabolism
March 2023 138(3)
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7 . Academic Journal
S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review.
저자
by
Lee, Angela
;
Knox, Renatta
;
Reynolds, Margaret
;
McRoy, Erin
;
Nguyen, Hoanh
.
소스
Journal of Inherited Metabolic Disease Reports; Nov2023, Vol. 64 Issue 6, p417-423, 7p
Open Access (Wiley)
Scopus
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7 . Academic Journal
An Efficient License Plate Detection Approach Using Lightweight Deep Convolutional Neural Networks.
저자
by
Nguyen, Hoanh
.
소스
Advances in Multimedia; 8/19/2022, p1-10, 10p
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3 . Academic Journal
Variant reclassification with functional study in a biochemically confirmed LCHAD/ TFP deficiency patient.
저자
by
Pajouhanfar, Sara
;
Lasio, Maria Laura Duque
;
Lee, Angela
;
Starosta, Rodrigo
;
Gokanapudy Hahn, Lakshmi R.
, et al.
소스
Molecular Genetics & Metabolism
. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.
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7 . Academic Journal
Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter.
저자
by
Wongkittichote, Parith
;
Mar, Soe Soe
;
McKinstry, Robert C.
;
Nguyen, Hoanh
.
소스
Frontiers in Genetics; 6/17/2022, Vol. 13, p1-5, 5p
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6 . Periodical
Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations: With advances in medicine, genetics has become a substantial part of patient care and PCP familiarity with genetic testing options and indications allow providers to deliver appropriate, up-to-date healthcare
저자
by
Lee, Angela
;
Neidich, Julie
;
Nguyen, Hoanh
.
소스
Missouri Medicine; Jul/Aug2022, Vol. 119 Issue 4, p390-396, 7p
Scopus
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5 . Academic Journal
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
저자
by
Kripps, Kimberly A.
;
Sremba, Leighann
;
Larson, Austin A.
;
Van Hove, Johan L.K.
;
Nguyen, Hoanh
, et al.
소스
Journal of Inherited Metabolic Disease; Mar2022, Vol. 45 Issue 2, p157-168, 12p
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