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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Malonates

Organic Chemicals Carboxylic Acids Acids, Acyclic Dicarboxylic Acids Malonates

4 articoli — 2005-2025 Include sottocategorie MeSH

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...

RI Editoriali
Quando e perché pensare all'omocisteina

Ramenghi U

2024/7 — pag. 415-416 — DOI

RI Pagine elettroniche
Quando una sepsi neonatale nasconde una malattia metabolica

C. Forino, C. Rodriguez-Perez

2005/1 — pag. 58-58

A 50-day-old boy presented with failure to thrive, hypotonia, pustular lesions and facial erythema, neutropenia and multiple positive cultures to Staphylococcus aureus. He was treated with intravenous antibiotics without clinical benefit. He devel...

Argomenti correlati
Homocysteine (4) Methylmalonic acid (4) acido metilmalonico (3) Hydroxocobalamin (3) Vitamin B 12 Deficiency (3) Megaloblastic anemia (2) Macrocytic anemia (2) Vitamin B12 deficiency (2) anemia (2) inborn errors of metabolism (2) Omocisteina (2) Pancytopenia (2) Metabolism, Inborn Errors (2) Hyperhomocysteinemia (2) Omocisteina elevata (2) Anemizzazione (1) errori congeniti metabolismo (1) procalcitonina (1) trombosi precoci (1) Cobalamin C disease (1)