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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Am J Med Genet A. 2021 Nov;185(11):3494-3501. doi: 10.1002/ajmg.a.62474. Epub 2021 Sep 1.
Am J Med Genet A. 2021.
PMID: 34467644
Free PMC article.
Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation.
Lekka DE, Brucknerova J, Salingova A, Sebova C, Ostrozlikova M, Ziburova J, Nemcovic M, Sestak S, Bellova J, Pakanova Z, Sivakova B, Skoknova M, Bzduch V, Mucha J, Barath P, Brucknerova I.
Lekka DE, et al. Among authors: ostrozlikova m.
Bratisl Lek Listy. 2021;122(3):190-195. doi: 10.4149/BLL_2021_030.
Bratisl Lek Listy. 2021.
PMID: 33618527
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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.
Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, Gašperíková D.
Brennerová K, et al. Among authors: ostrozlikova m.
BMC Pediatr. 2021 Dec 16;21(1):578. doi: 10.1186/s12887-021-03067-3.
BMC Pediatr. 2021.
PMID: 34915869
Free PMC article.
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