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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acido metilmalonico

4 articoli — 2024-2025

EL I Poster degli specializzandi
Accesso libero
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...

EL I Poster degli specializzandi
Accesso libero
Una carenza di vitamina B12... contagiosa

Acone F, Gustuti V

2025/3 — pag. 73-74 — DOI

The paper reports the case of a seven-month-old infant presenting with recurrent vomiting, severe pallor, hypotonia and growth arrest. Laboratory tests revealed pancytopenia with macrocytic anaemia, hyperhomocysteinemia and markedly elevated methylma...

RI Pagine elettroniche
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...

EL Caso contributivo
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...

Argomenti correlati
Methylmalonic acid (4) Homocysteine (4) omocisteina (3) Vitamin B 12 Deficiency (3) Anemia macrocitica (3) Carenza di vitamina B12 (3) Hydroxocobalamin (3) Macrocytic anemia (3) Vitamin B12 Deficiency (3) Megaloblastic anemia (3) Anemia, Macrocytic (2) Metabolism, Inborn Errors (2) B12 (2) Anemia, Megaloblastic (2) Omocisteina elevata (2) Anemia megaloblastica (2) Methionine Synthase Reductase (2) Hyperhomocysteinemia (2) Pancytopenia (2) Excluded Fanconi anemia (1)