Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2014 2
2015 4
2016 8
2017 2
2020 3
2021 5
2022 2
2023 2
2024 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

23 results

Results by year

Filters applied: . Clear all
Page 1
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
Öncül Ü, Kose E, Eminoğlu FT. Öncül Ü, et al. Mol Syndromol. 2022 Feb;13(1):69-74. doi: 10.1159/000517797. Epub 2021 Sep 21. Mol Syndromol. 2022. PMID: 35221878 Free PMC article.
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. ...
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient …
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Front Genet. 2021 Sep 9;12:744884. doi: 10.3389/fgene.2021.744884. eCollection 2021. Front Genet. 2021. PMID: 34567092 Free PMC article.
The presence in the patient's serum of the pathognomonic N-linked mannose-deprived tetrasaccharide marker for ALG1-CDG (Neu5Acalpha2,6Galbeta1,4-GlcNAcbeta1,4GlcNAc) further supported this diagnosis. This is the first report of an ALG1-CDG patient from …
The presence in the patient's serum of the pathognomonic N-linked mannose-deprived tetrasaccharide marker for ALG1-CDG (Neu5Ac …
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. To date 13 mutations in 18 patients from 14 families have been described with varying degrees of clinical severity. We identified and characterized 39 previously unreported cases of ALG1 …
ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. To date 13 mutations in 18 patients from 14 families …
Chemo-enzymatic synthesis of the ALG1-CDG biomarker and evaluation of its immunogenicity.
Jia JX, Kalisa NY, Lu TT, Zhou Z, Gao XD, Wang N. Jia JX, et al. Bioorg Med Chem Lett. 2020 Dec 15;30(24):127614. doi: 10.1016/j.bmcl.2020.127614. Epub 2020 Oct 17. Bioorg Med Chem Lett. 2020. PMID: 33080352
One tetrasaccharide, i.e., Neu5Ac-alpha2, 6-Gal-beta1, 4-GlcNAc-beta1, 4-GlcNAc, was recently reported as the biomarker of ALG1-CDG, the disease caused by ALG1 deficiency. To develop a novel diagnostic method for ALG1-CDG, chemo-enzymatic synthesis of …
One tetrasaccharide, i.e., Neu5Ac-alpha2, 6-Gal-beta1, 4-GlcNAc-beta1, 4-GlcNAc, was recently reported as the biomarker of ALG1-CD …
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Front Genet. 2021 Sep 30;12:777731. doi: 10.3389/fgene.2021.777731. eCollection 2021. Front Genet. 2021. PMID: 34659374 Free PMC article.
ALG1-CDG: a new case with early fatal outcome.
Rohlfing AK, Rust S, Reunert J, Tirre M, Du Chesne I, Wemhoff S, Meinhardt F, Hartmann H, Das AM, Marquardt T. Rohlfing AK, et al. Gene. 2014 Jan 25;534(2):345-51. doi: 10.1016/j.gene.2013.10.013. Epub 2013 Oct 21. Gene. 2014. PMID: 24157261
The deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, encoded by the human ortholog of ALG1 from yeast, is known as ALG1-CDG (CDG-Ik). The phenotypical, molecular and biochemical analysis of a severely affected ALG1-CDG patient is the focu …
The deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, encoded by the human ortholog of ALG1 from yeast, is known as ALG1 …
Clinical and Molecular Characterization of ALG1-CDG.
Dhamija R, Chambers C. Dhamija R, et al. Pediatr Neurol Briefs. 2016 Feb;30(2):14. doi: 10.15844/pedneurbriefs-30-2-5. Pediatr Neurol Briefs. 2016. PMID: 27053910 Free PMC article.
Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one pathogenic variants in th …
Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study gr …
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
Bengtson P, Ng BG, Jaeken J, Matthijs G, Freeze HH, Eklund EA. Bengtson P, et al. J Inherit Metab Dis. 2016 Jan;39(1):107-14. doi: 10.1007/s10545-015-9884-y. Epub 2015 Sep 3. J Inherit Metab Dis. 2016. PMID: 26335155 Free PMC article.
ALG1-CDG (formerly CDG-Ik) is a subtype of congenital disorders of glycosylation (CDG) where the genetic defect disrupts the synthesis of the lipid-linked oligosaccharide precursor required for N-glycosylation. ...This is the first time analysis of serum TF can sugg …
ALG1-CDG (formerly CDG-Ik) is a subtype of congenital disorders of glycosylation (CDG) where the genetic defect disrupts the s …
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.
We distinguish two main groups: on the one hand, the CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG, and on the other hand, the CDG types associated with liver disease but not as a striking, unique or predomin …
We distinguish two main groups: on the one hand, the CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG …
23 results