Vasculitis

Vaskulitis predstavlja klinički heterogenu skupinu bolesti multifaktorijalne etiologije koju karakteriše upala bilo velikih krvnih sudova (vaskulitis velikih sudova, npr. Giant-ćelijski arteritis i Takayasu arteritis; videti ove pojmove), srednje velikih krvnih...

Oligodontia

Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

Takayasu arteritis

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

Citrullinemia

Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations...

DPAGT1-CDG

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency,...