od strane Radmin | мар 31, 2023 | Bolesti
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od strane Radmin | мар 31, 2023 | Bolesti
SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
od strane Radmin | мар 31, 2023 | Bolesti
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od strane Radmin | мар 31, 2023 | Bolesti
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic...
od strane Radmin | мар 31, 2023 | Bolesti
STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory...
