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Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. Hall PL, et al. Among authors: lam c. Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10. Mol Genet Metab. 2018. PMID: 29550355 Free PMC article.
Congenital disorders of glycosylation.
Chang IJ, He M, Lam CT. Chang IJ, et al. Ann Transl Med. 2018 Dec;6(24):477. doi: 10.21037/atm.2018.10.45. Ann Transl Med. 2018. PMID: 30740408 Free PMC article. Review.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: lam c. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: lam c. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.
Starosta RT, Boyer S, Tahata S, Raymond K, Lee HE, Wolfe LA, Lam C, Edmondson AC, Schwartz IVD, Morava E. Starosta RT, et al. Among authors: lam c. Orphanet J Rare Dis. 2021 Jan 7;16(1):20. doi: 10.1186/s13023-020-01630-2. Orphanet J Rare Dis. 2021. PMID: 33413482 Free PMC article.
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA; University of Washington Center for Mendelian Genomics (UW-CMG); Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C. Alsharhan H, et al. Among authors: lam c. J Inherit Metab Dis. 2021 Jul;44(4):987-1000. doi: 10.1002/jimd.12367. Epub 2021 Mar 1. J Inherit Metab Dis. 2021. PMID: 33583022 Free PMC article.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Čechová A, et al. Among authors: lam c. Mol Genet Metab. 2021 Aug;133(4):397-399. doi: 10.1016/j.ymgme.2021.06.003. Epub 2021 Jun 11. Mol Genet Metab. 2021. PMID: 34140212 Free PMC article.
4,671 results