Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E

Open source

DOI
10.1016/j.ymgme.2024.108509
Published
2024 Aug
Container
Molecular genetics and metabolism
Publisher
Not recorded
Open access
yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1016/j.ymgme.2024.108509,
  title = {Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.},
  author = {Lam C and Scaglia F and Berry GT and Larson A and Sarafoglou K and Andersson HC and Sklirou E and Tan QKG and Starosta RT and Sadek M and Wolfe L and Horikoshi S and Ali M and Barone R and Campbell T and Chang IJ and Coles K and Cook E and Eklund EA and Engelhardt NM and Freeman M and Friedman J and Fu DYT and Botzo G and Rawls B and Hernandez C and Johnsen C and Keller K and Kramer S and Kuschel B and Leshinski A and Martinez-Duncker I and Mazza GL and Mercimek-Andrews S and Miller BS and Muthusamy K and Neira J and Patterson MC and Pogorelc N and Powers LN and Ramey E and Reinhart M and Squire A and Thies J and Vockley J and Vreugdenhil H and Witters P and Youbi M and Zeighami A and Zemet R and Edmondson AC and Morava E},
  year = {2024},
  journal = {Molecular genetics and metabolism},
  doi = {10.1016/j.ymgme.2024.108509},
  url = {https://doi.org/10.1016/j.ymgme.2024.108509}
}

RIS

TY  - JOUR
TI  - Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
AU  - Lam C
AU  - Scaglia F
AU  - Berry GT
AU  - Larson A
AU  - Sarafoglou K
AU  - Andersson HC
AU  - Sklirou E
AU  - Tan QKG
AU  - Starosta RT
AU  - Sadek M
AU  - Wolfe L
AU  - Horikoshi S
AU  - Ali M
AU  - Barone R
AU  - Campbell T
AU  - Chang IJ
AU  - Coles K
AU  - Cook E
AU  - Eklund EA
AU  - Engelhardt NM
AU  - Freeman M
AU  - Friedman J
AU  - Fu DYT
AU  - Botzo G
AU  - Rawls B
AU  - Hernandez C
AU  - Johnsen C
AU  - Keller K
AU  - Kramer S
AU  - Kuschel B
AU  - Leshinski A
AU  - Martinez-Duncker I
AU  - Mazza GL
AU  - Mercimek-Andrews S
AU  - Miller BS
AU  - Muthusamy K
AU  - Neira J
AU  - Patterson MC
AU  - Pogorelc N
AU  - Powers LN
AU  - Ramey E
AU  - Reinhart M
AU  - Squire A
AU  - Thies J
AU  - Vockley J
AU  - Vreugdenhil H
AU  - Witters P
AU  - Youbi M
AU  - Zeighami A
AU  - Zemet R
AU  - Edmondson AC
AU  - Morava E
PY  - 2024
JO  - Molecular genetics and metabolism
DO  - 10.1016/j.ymgme.2024.108509
UR  - https://doi.org/10.1016/j.ymgme.2024.108509
ER  -

APA

C, L., F, S., GT, B., A, L., K, S., HC, A., E, S., QKG, T., RT, S., M, S., L, W., S, H., M, A., R, B., T, C., IJ, C., K, C., E, C., EA, E., NM, E., M, F., J, F., DYT, F., G, B., B, R., C, H., C, J., K, K., S, K., B, K., A, L., I, M., GL, M., S, M., BS, M., K, M., J, N., MC, P., N, P., LN, P., E, R., M, R., A, S., J, T., J, V., H, V., P, W., M, Y., A, Z., R, Z., AC, E., & E, M. (2024). Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.. Molecular genetics and metabolism. https://doi.org/10.1016/j.ymgme.2024.108509

Source records