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1 . Academic Journal
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
저자
by
Peters, Tessa M. A.
;
Engelke, Udo F. H.
;
de Boer, Siebolt
;
Reintjes, Joris T. G.
;
Roullet, Jean‐Baptiste
, et al.
소스
Journal of Inherited Metabolic Disease; May2024, Vol. 47 Issue 3, p417-430, 14p
Web of Science
Scopus
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7 . Academic Journal
Oral sialic acid supplementation in NANS‐CDG: Results of a single center, open‐label, observational pilot study.
저자
by
den Hollander, Bibiche
;
Brands, Marion M.
;
de Boer, Lonneke
;
Haaxma, Charlotte A.
;
Lengyel, Anna
, et al.
소스
Journal of Inherited Metabolic Disease; Sep2023, Vol. 46 Issue 5, p956-971, 16p
Web of Science
Scopus
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7 . Academic Journal
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
저자
by
Merx, Jona
;
van Outersterp, Rianne E.
;
Engelke, Udo F. H.
;
Hendriks, Veronique
;
Wevers, Ron A.
, et al.
소스
Communications Biology
. 9/21/2022, Vol. 5 Issue 1, p1-8. 8p.
Web of Science
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7 . Academic Journal
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
저자
by
Hoegen, Brechtje
;
Hampstead, Juliet E.
;
Engelke, Udo F.H.
;
Kulkarni, Purva
;
Wevers, Ron A.
, et al.
소스
Journal of Inherited Metabolic Disease; Jul2022, Vol. 45 Issue 4, p682-695, 14p
Web of Science
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7 . Academic Journal
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
저자
by
Wortmann, Saskia B.
;
Oud, Machteld M.
;
Alders, Mariëlle
;
Coene, Karlien L. M.
;
van der Crabben, Saskia N.
, et al.
소스
Journal of Inherited Metabolic Disease; Jul2022, Vol. 45 Issue 4, p663-681, 19p
Web of Science
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7 . Academic Journal
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
저자
by
Tseng, Laura A.
;
Engelke, Udo F. H.
;
Huigen, Marleen C. D. G.
;
Kluijtmans, Leo A. J.
;
Haaxma, Charlotte A.
, et al.
소스
Clinical Chemistry; May2022, Vol. 68 Issue 5, p732-735, 4p
Full Text (OUP)
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7 . Academic Journal
Metabolite Identification Using Infrared Ion Spectroscopy--Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
저자
by
van Outersterp, Rianne E.
;
Engelke, Udo F. H.
;
Merx, Jona
;
Berden, Giel
;
Paul, Mathias
, et al.
소스
Analytical Chemistry; 11/23/2021, Vol. 93 Issue 46, p15340-15348, 9p
Full Text (ACS)
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7 . Academic Journal
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
저자
by
Hagemeijer, Marne C.
;
Oussoren, Esmee
;
Ruijter, George J. G.
;
Onkenhout, Willem
;
Huidekoper, Hidde H.
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Sep2021, Vol. 61 Issue 1, p12-18, 7p
Open Access (Wiley)
Scopus
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7 . Academic Journal
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism.
저자
by
van Outersterp, Rianne E.
;
Moons, Sam J.
;
Engelke, Udo F. H.
;
Bentlage, Herman
;
Peters, Tessa M. A.
, et al.
소스
Communications Biology
. 3/19/2021, Vol. 4 Issue 1, p1-8. 8p.
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7 . Academic Journal
Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants.
저자
by
Peters, Tessa M. A.
;
Lammerts van Bueren, Irma
;
Geurtz, Ben P.B.H.
;
Coene, Karlien L. M.
;
Leeuw, Nicole
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Mar2021, Vol. 58 Issue 1, p114-121, 8p
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