Spontaneous Perforation of the Small Intestine, a Novel Manifestation of Classical Homocystinuria in an Adult with New Cystathionine beta-synthetase Gene Mutations (CROSBI ID 175841)
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Podaci o odgovornosti
Muačević-Katanec, Diana ; Kekez, Tihomir ; Fumić, Ksenija ; Merkler, Marijan ; Jakić-Razumović, Jasminka ; Krznarić, željko ; Zadro, Renata ; Katanec, Davor ; Reiner, Željko
engleski
Spontaneous Perforation of the Small Intestine, a Novel Manifestation of Classical Homocystinuria in an Adult with New Cystathionine beta-synthetase Gene Mutations
The clinical picture of classical homocystinuira is diverse. This is th first report of an adult homocystinuric patient with non-traumatic spontaneous small bowel perforation. A 47-year old man presented with abdominal rebound tenderness, hypertension and tachycardia, anemaia, and elevated markers of inflammation.
cystathionine beta-synthetase deficiency; spontaneous small bowel perforation
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Podaci o izdanju
Povezanost rada
Kliničke medicinske znanosti