Correspondence on «Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG»
Am J Med Genet A. 2022 Jan;188(1):382-383. doi: 10.1002/ajmg.a.62511. Epub 2021 Sep 25.
Publicaciones sobre CDG
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications
Mol Genet Metab. 2022 Jan;135(1):3-14. doi: 10.1016/j.ymgme.2021.12.014. Epub 2021 Dec 23.
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation
Hum Genet. 2022 Jan 8. doi: 10.1007/s00439-021-02420-x. Online ahead of print.
Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult
Acta Biochim Pol. 2021 Sep 6;68(4):791-793. doi: 10.18388/abp.2020_5715.
GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB
Mol Biomed. 2021 May 10;2(1):13. doi: 10.1186/s43556-021-00027-2.
Expansion of the clinical phenotype of GALE deficiency
J Pediatr Endocrinol Metab. 2021 Jun 21. doi: 10.1515/jpem-2021-0292. Online ahead of print.
SLC35A2-CDG: novel variants with two ends of the spectrum
J Pediatr Endocrinol Metab. 2021 Jun 21. doi: 10.1515/jpem-2021-0292. Online ahead of print.
MAN1B1-CDG: novel patients and novel variant
J Pediatr Endocrinol Metab. 2021 Jun 23. doi: 10.1515/jpem-2021-0038. Online ahead of print.
Liver Involvement in Congenital Disorders of Glycosylation. A Systematic Review
J Pediatr Gastroenterol Nutr. 2021 Jun 24. doi: 10.1097/MPG.0000000000003209. Online ahead of print.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation
Mol Genet Metab. 2020 Oct 17;S1096-7192(20)30207-9. doi: 10.1016/j.ymgme.2020.10.007. Online ahead of print.
A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1
FEBS Lett. 2020 Oct 24. doi: 10.1002/1873-3468.13968. Online ahead of print.
Long term outcome of MPI-CDG patients on D-mannose therapy
J Inherit Metab Dis. 2020 Jul 17. doi: 10.1002/jimd.12289. Online ahead of print.
Chemo-enzymatic synthesis of the ALG1-CDG biomarker and evaluation of its immunogenicity
Bioorg Med Chem Lett. 2020 Oct 17;30(24):127614. doi: 10.1016/j.bmcl.2020.127614. Online ahead of print.
Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation
Int J Mol Sci. 2020 Oct 15;21(20):7635. doi: 10.3390/ijms21207635.
Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient
Am J Med Genet A. 2020 Oct 15. doi: 10.1002/ajmg.a.61916. Online ahead of print.
Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy
Rev Invest Clin. 2020 May 7;73(5). doi: 10.24875/RIC.20000277. Online ahead of print.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature
Am J Med Genet A. 2020 Oct 12. doi: 10.1002/ajmg.a.61914. Online ahead of print.
Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population
J Pediatr Neurosci. Apr-Jun 2020;15(2):86-89. doi: 10.4103/jpn.JPN_145_18. Epub 2020 Jun 27.
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
Orphanet J Rare Dis. 2020 Oct 9;15(1):280. doi: 10.1186/s13023-020-01564-9.
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations
Mov Disord. 2020 Oct 6. doi: 10.1002/mds.28313. Online ahead of print.
ALG13 participates in epileptogenesis via regulation of GABA A receptors in mouse models
Cell Death Discov. 2020 Sep 17;6:87. doi: 10.1038/s41420-020-00319-6. eCollection 2020.
Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation
BMC Med Genet. 2020 Jun 23;21(1):135. doi: 10.1186/s12881-020-01067-1.
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty
J Hum Genet. 2020 Apr;65(4):387-396. doi: 10.1038/s10038-019-0719-9. Epub 2020 Jan 21.