Síndrome CDG​ | Publicaciones sobre CDG
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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.

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.

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.

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.

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.