Omocisteina

Quando le anemie sono una questione di VITA... MINE

Passarella T, Alboreto E, Costagliola C, Serafino F, Di Jorgi M, Arcuri L, Calvillo M

2025/9 — pag. 249-250 — DOI

The paper reports two paediatric cases of severe macrocytic anaemia due to vitamin B12 deficiency. Both patients presented with cytopenia and neurological involvement, which improved with hydroxocobalamin supplementation. These cases highlight the im...

Rivista sfogliabile on line

2024/7

La B12 c'è ma non funziona

Vitale R.

2024/7 — pag. 468-470 — DOI

The paper reports the typical case and clinic of a defect in B12 metabolism. Such diseases, which are rare, mimic B12 intake or absorption deficits (crasis alterations, mixed neuropathy) but are distinguished first and foremost by the presence of nor...

Omocisteina alta? Quello che il pediatra deve sapere

Cantarelli E, Biasucci G, Bortolamedi E, Ortolano R, Candela E, Baronio F, Lanari M.

2024/7 — pag. 435-442 — DOI

Hyperhomocysteinemia may cause concern to the paediatrician due to its correlation with increased cardiovascular risk. In paediatric age, the most common cause is a nutritional vitamin deficiency, particularly vitamin B12 or folate, which can be foun...

Quando e perché pensare all'omocisteina

Ramenghi U

2024/7 — pag. 415-416 — DOI

La B12 c'è ma non funziona

Vitale R

2024/7 — pag. 133-134 — DOI

The paper reports the typical case and clinic of a defect in B12 metabolism. Such diseases, which are rare, mimic B12 intake or absorption deficits (crasis alterations, mixed neuropathy) but are distinguished first and foremost by the presence of nor...

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...

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...

Un piede multicolor!

A. Favret, G. Bravar

2015/1

Tanto volume per nulla…

E. Alberti, C. Domenici, F. Massei, M. Nardi, C. Favre, R. Domenici

2014/4

Trimethoprim, omocisteina e trombosi

G. Bartolozzi

1999/5