ALG11-CDG syndrome: expanding the phenotype
ALG11-Congenital Disorder of Glycosylation (ALG11-CDG also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of
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ALG11-CDG syndrome: expanding the phenotype
1 mars 2019 ALG11-Congenital Disorder of Glycosylation (ALG11-CDG also known as congenital disorder of glycosylation type Ip) is an inherited inborn ...
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The medaka alg2 mutant is a model for hypo-N-glycosylation
24 août 2020 Keywords: CDG / disease model / glycosylation / medaka ... Its stability may even be increased in complexes with ALG1 and ALG11 (Gao et al.
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Fructose and Mannose in Inborn Errors of Metabolism and Cancer
25 juill. 2021 MPI-CDG PMM2-CDG
Curriculum Vitae
9 févr. 2022 congenital disorder of glycosylation caused by deficiency in ALG11 (ALG11-CDG). Neurology. 2010;74S2:A273. 9.L Brun L Ngu
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A case of fatal Type I congenital disorders of glycosylation (CDG I
Background: Type I congenital disorders of glycosylation (CDG-I) are mostly complex multisystemic NM_144988) ALG11 (NM_001004127)] and dolichol.
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Prevalence of Genetic Disorders and GLUT1 Deficiency in a
15 mai 2017 deficiency pathogenic copy number variants
prevalence of genetic disorders and glut deficiency in a ketogenic diet clinic
INBORN ERRORS OF METABOLISM
Introduction: Congenital disorders of glycosylation (CDG) are a 531del one CDG-PGM1 (GSD-14) patient with c.825del mutation
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Prevalence of Congenital Disorders of Glycosylation in Childhood
10 août 2021 Nine patients were diagnosed with CDG: PMM2-CDG (n = 5) ALG3-CDG (n = 1)
Biochemical characterization membrane association and
30 avr. 2010 amino acids essential for function of Alg11 from Saccharomyces cerevisiae ... Congenital Disorders of Glycosylation (CDG) as it applies for ...
- cdg disease alg11 life expectancy