Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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cistationina beta-sintasi

2 articoli — 2021-2024

EL I Poster degli specializzandi
Accesso libero
Anticipare il futuro (di circa otto anni) per provare a cambiarlo

Di Cataldo G, Gauci MC, Gammeri C, Dierna F, Ferrera G, Gambilonghi F, Meli C

2024/7 — pag. 141-141 — DOI

A 14-day-old infant was diagnosed with classical homocystinuria through extended newborn screening after detecting hypermethioninemia and elevated homocysteine levels. The infant exhibited feeding difficulties and poor general health. Following a low...

EL Caso contributivo
L’omocistinuria classica in età pediatrica

Ravaglia A, Costagliola G, Spada M

2021/10 — pag. 309-313 — DOI

Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increas...

Argomenti correlati
Omocistinuria classica (2) Metabolism, Inborn Errors (2) screening neonatale (2) Cystathionine beta-synthase (2) Neonatal Screening (2) Homocystinuria (2) Methionine (2) Homocysteine (2) omocisteina (2) ipermetioninemia (1) Specific therapy (1) deficit enzimatico (1) Newborn metabolic screening (1) hypermethioninemia (1) screening metabolico neonatale (1) cystathionine β-lyase (1) methionine restriction therapy (1) Homocysteine, Cystathionine beta-synthase, Extended newborn metabolic screening (1) Cistationina beta sintasi (1) Thromboembolism (1)