Anna Čechová
0000-0002-5802-6006
Charles University
5 papers found
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Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
Review of SRD5A3 disease-causing sequence variants and ocular findings in steroid 5α-reductase type 3 congenital disorder of glycosylation, and a detailed new case
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
Phosphomannomutase 2 deficiency: Clinical, biochemical and molecular analyses in 22 Czech patients,Deficit fosfomanomutázy 2: Klinická, biochemická a molekulárně--genetická charakteristika 22 pacientů diagnostikovaných v české republice
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