138 research outputs found
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I
Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate treatment may avoid the need for liver transplantation. We report two patients who presented with acute liver failure and were referred to our center for liver transplantation work-up. Urgent metabolic investigations revealed citrullinemia type I. Treatment for citrullinemia type I avoided the need for liver transplantation. Acute liver failure as a presentation of citrullinemia type I has not previously been reported in young children. Although acute liver failure has occasionally been described in other urea cycle disorders, these disorders may be underestimated as a cause. Timely diagnosis and treatment of these disorders may avoid liver transplantation and improve clinical outcome. Therefore, urea cycle disorders should be included in the differential diagnosis in young children presenting with acute liver failure
Impact of patient education on chronic heart failure in primary care (ETIC): a cluster randomised trial
Patient education in chronic heart failure in primary care (ETIC) and its impact on patient quality of life: design of a cluster randomised trial
International practices in the dietary management of fructose 1-6 biphosphatase deficiency
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Prévalence et prise en charge de l'insuffisance cardiaque en France : enquête nationale auprès des médecins généralistes du réseau Sentinelles.
Les stocks de carbone dans les sols des Antilles : importance agronomique et environnementale
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