SLC35A1-CDG
Definicija
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.
Pretraga
Pun naziv
SLC35A1-CDG
Kratki naziv
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Sinonimi
CDG syndrome type IIfCarbohydrate deficient glycoprotein syndrome type IIfCongenital disorder of glycosylation type IIfCMP-sialic acid transporter deficiencyCongenital disorder of glycosylation type 2fCDG2FCDG-IIf
Orpha broj
238459
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
NULL
Nasleđivanje
No data available
Period početka bolesti
-
ICD 10
E77.8
OMIM
603585
UMLS
C1970344
GARD
12409
MEDDRA
NULL
Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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