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1 . Academic Journal
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.
저자
by
Scherpenzeel, Monique van
;
Conte, Federica
;
Büll, Christian
;
Ashikov, Angel
;
Hermans, Esther
, et al.
소스
Glycobiology
. Mar2022, Vol. 39 Issue 3, p239-250. 12p.
Full Text (OUP)
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7 . Periodical
Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content.
저자
by
Simons, Nynke
;
Debray, François-Guillaume
;
Schaper, Nicolaas C
;
Kooi, M Eline
;
Feskens, Edith J M
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism; November 2019, Vol. 104 Issue: 11 p5056-5064, 9p
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7 . Academic Journal
O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery.
저자
by
van Tol, Walinka
;
Wessels, Hans
;
Lefeber, Dirk J
.
소스
Current Opinion in Structural Biology
. Jun2019, Vol. 56, p107-118. 12p.
Full Text (ScienceDirect)
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5 . Academic Journal
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
저자
by
Barba, Carmen
;
Darra, Francesca
;
Cusmai, Raffaella
;
Procopio, Elena
;
Dionisi Vici, Carlo
, et al.
소스
Developmental Medicine & Child Neurology
. Oct2016, Vol. 58 Issue 10, p1085-1091. 7p.
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7 . Periodical
Oral D-galactose supplementation in PGM1-CDG
저자
by
Wong, Sunnie Yan-Wai
;
Gadomski, Therese
;
van Scherpenzeel, Monique
;
Honzik, Tomas
;
Hansikova, Hana
, et al.
소스
Genetics in Medicine; November 2017, Vol. 19 Issue: 11 p1226-1235, 10p
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7 . Academic Journal
Absence of [alpha]- and [beta]-dystroglycan is associated with Walker-Warburg syndrome.
저자
by
Riemersma, Moniek
;
Mandel, Hanna
;
van Beusekom, Ellen
;
Gazzoli, Isabella
;
Roscioli, Tony
, et al.
소스
Neurology; 5/26/2015, Vol. 84 Issue 21, p2177-2182, 6p
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7 . Academic Journal
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.
저자
by
Elmonem, Mohamed A
;
Makar, Samuel H
;
van den Heuvel, Lambertus
;
Abdelaziz, Hanan
;
Abdelrahman, Safaa M
, et al.
소스
Orphanet Journal of Rare Diseases
. 2014, Vol. 9 Issue 1, p155-164. 10p. 1 Black and White Photograph, 1 Chart, 4 Graphs.
Open Access (BioMed Central)
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7 . Periodical
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
저자
by
van Karnebeek, Clara D M
;
Bonafé, Luisa
;
Wen, Xiao-Yan
;
Tarailo-Graovac, Maja
;
Balzano, Sara
, et al.
소스
Nature Genetics; June 2016, Vol. 48 Issue: 7 p777-784, 8p
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7 . Academic Journal
Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
저자
by
Wolthuis, David FGJ
;
Janssen, Miriam C
;
Cassiman, David
;
Lefeber, Dirk J
;
Morava-Kozicz, Eva
.
소스
Expert Review of Molecular Diagnostics; Mar2014, Vol. 14 Issue 2, p217-224, 8p
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7 .
Application of 13C flux analysis for diagnosis of metabolic disorders
저자
by
Noga, Marek J
;
Conte, Federica
;
Veizaj, Raisa
;
Wintjes, Liesbeth
;
Kwast, Hanneke
, et al.
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