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tyrosinemias/carbohydrate
Nuoroda įrašoma į mainų sritį
5 rezultatus
Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma.
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Prisijungti Registracija
Despite the introduction of 2-(2-nitro-4-trifluormethyl-benzoyl)-1,3-cyclohexandion into the treatment of hereditary tyrosinemia type I (HT1), patients remain at risk of developing hepatocellular carcinoma (HCC). Serial total alpha-fetoprotein (AFP) levels are used to monitor the individual patient.
An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1.
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The ketogenic diet is an evidence-based treatment for resistant epilepsy including Lennox-Gastaut syndrome. This diet is based on low carbohydrate-high fat intakes. Dietary treatment is also therapeutic for inborn errors of metabolism such as aminoacdiopathies. We report a child with both
[Progress in the early detection of inborn errors of metabolism].
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Prisijungti Registracija
The aim of present study was to evaluate the effectiveness of screening program for early detection of some metabolic errors in newborn population. The examinations included: early diagnostic of some amino acids and carbohydrates disturbances, cystic fibrosis and congenital hypothyreosis. Guthrie
[Nutrition and orphan diseases]
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Prisijungti Registracija
Diagnosis and treatment of orphan (rare) diseases is an important problem of modern pediatrics due to multivarious clinical signs and severe course of this pathology. Orphan diseases are associated with accumulation, absence or insufficient synthesis of one or several metabolites in the organism.
[Hypoglycemia and endocrine effects of adults' inborn errors of metabolism].
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Prisijungti Registracija
Inborn errors of metabolism (IEM) are rare diseases, most often inherited as an autosomal recessive disorder. They may be associated with endocrine dysfunction, the most frequent of them being disorders of carbohydrate metabolism (hypoglycemia, diabetes). The endocrinologist might be led to screen
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