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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Lipid Metabolism, Inborn Errors

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolism, Inborn Errors Lipid Metabolism, Inborn Errors

3 articoli — 2013-2023

EL Casi indimenticabili
Rabdomiolisi: non solo influenza...

Gortani G, De Nardi L

2023/5 — pag. 87-87 — DOI

The case of a 6-year-old girl presenting with rabhdomyolysis and hypoglycaemia initially misdiagnosed as simply related to the flu is described. The diagnosis of carnitine-palmitoyltransferase II deficiency was finally made....

RI Pediatria flash
Xantomatosi cerebro-tendinea

P. Pascolo

2016/5 — pag. 310-312

EL Caso contributivo
Una colestasi senza prurito

L. Matarazzo, S. Martelossi, G. Maggiore, G.P. Chiaffoni , A. Ventura

2013/5

Bile acids deficiency is characterized by an inadequate synthesis of bile salts with accumulation of abnormal hepatotoxic metabolites and liver damage. High levels of abnormal bile acid are found in urine. Clinical features include jaundice without i...

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Rickets (59) Hypoglycemia (51) Cholestasis (44) Rachitismo (36) Neonatal cholestasis (26) Colestasi neonatale (26) Colestasi (21) rhabdomyolysis (17) Cataract (13) rabdomiolisi (13) Influenza A (13) Bile Acids and Salts (10) Influenza A virus (9) myoglobinuria (9) mioglobinuria (7) Steatorrea (4) Viral myositis (4) Neurodegenerative Diseases (4) Steatorrhea (3) Cerebrotendinous xanthomatosis (3)