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Quoted phrase not found in phrase index: "ALG9 congenital disorder of glycosylation"
Page 1
What is new in CDG?
Jaeken J, Péanne R. Jaeken J, et al. J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8. J Inherit Metab Dis. 2017. PMID: 28484880 Review.
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. ...Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) a …
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. .. …
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Himmelreich N, Dimitrov B, Zielonka M, Hüllen A, Hoffmann GF, Juenger H, Müller H, Lorenz I, Busse B, Marschall C, Schlüter G, Thiel C. Himmelreich N, et al. Mol Genet Metab. 2022 Aug;136(4):274-281. doi: 10.1016/j.ymgme.2022.06.005. Epub 2022 Jun 26. Mol Genet Metab. 2022. PMID: 35839600 Review.
ALG9-CDG is a CDG-I defect within the group of Congenital Disorders of Glycosylation (CDG). ...The clinical findings of our patients and of all previously published ALG9-CDG patients are brought together to further expand the knowledge ab …
ALG9-CDG is a CDG-I defect within the group of Congenital Disorders of Glycosylation (CDG). ...The clinic …
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.
Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D. Marques-da-Silva D, et al. J Inherit Metab Dis. 2017 Mar;40(2):195-207. doi: 10.1007/s10545-016-0012-4. Epub 2017 Jan 20. J Inherit Metab Dis. 2017. PMID: 28108845 Review.
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. ...We distinguish two main groups: on the one hand, the CDG types with predominant or isolated liver involvement inc …
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects i …
Congenital disorders of glycosylation: The Saudi experience.
Alsubhi S, Alhashem A, Faqeih E, Alfadhel M, Alfaifi A, Altuwaijri W, Alsahli S, Aldhalaan H, Alkuraya FS, Hundallah K, Mahmoud A, Alasmari A, Mutairi FA, Abduraouf H, AlRasheed L, Alshahwan S, Tabarki B. Alsubhi S, et al. Am J Med Genet A. 2017 Oct;173(10):2614-2621. doi: 10.1002/ajmg.a.38358. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742265
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. ...Our study provides comprehensive epidemiologic informatio …
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Sa …
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S. Al Teneiji A, et al. Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3. Mol Genet Metab. 2017. PMID: 28122681
BACKGROUND: Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a screening test for CDG type I (CDG-I) and type II (CDG-II). ...
BACKGROUND: Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multis …
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ. Abu Bakar N, et al. J Inherit Metab Dis. 2022 Jul;45(4):769-781. doi: 10.1002/jimd.12496. Epub 2022 Mar 28. J Inherit Metab Dis. 2022. PMID: 35279850 Free PMC article.
Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurological symptoms. ...Moreover, group-specific high-mannose N-glycan signatures …
Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous m …
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G. Tham E, et al. Eur J Hum Genet. 2016 Feb;24(2):198-207. doi: 10.1038/ejhg.2015.91. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966638 Free PMC article.
Mass spectrometric analysis showed an increase in monoglycosylated transferrin as compared with control tissues, confirming that this is a congenital disorder of glycosylation (CDG). Only three liveborn children with ALG9-CDG have been previousl …
Mass spectrometric analysis showed an increase in monoglycosylated transferrin as compared with control tissues, confirming that this is a …