Homocystinuria: Literature Review and Clinical Case Description

• Egile Nagusiak: Natalia V. Buchinskaya (Egilea), Eugenia A. Isupova (Egilea), Mikhail M. Kostik (Egilea)
• Formatua: Liburua
• Argitaratua: "Paediatrician" Publishers LLC, 2019-09-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Homocystinuria is rare autosomal-recessive monogenic disorder associated with disturbance of methionine metabolism due to liver enzyme cystathionine--synthetase (CBS) deficit. That in turn causes elevated concentration of homocystein and its metabolites in blood and urine. The main clinical manifest...