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7 resultats
A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase.
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Deficiency of dihydropyrimidine dehydrogenase (DPD) is a rare inborn error of pyrimidine metabolism. To date, only about 50 patients are known worldwide. The clinical picture is varied and is not yet fully described. Most patients are diagnosed at the age of 1-3 years. We present a patient diagnosed
A case of myotonic dystrophy (MD) associated with glucose-induced hyperinsulinemia followed by reactive hypoglycemia and increased number of cytosine-thymine-guanine (CTG) trinucleotide repeats in MD gene.
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A 39-year-old man with myotonic dystrophy consulted our hospital for nausea, vomiting and dizziness that occurred after 75 g oral glucose tolerance test (OGTT). Reexamination of OGTT revealed remarkable hyperinsulinemia (622 microU/ml) followed by reactive hypoglycemia (50 mg/dl) and such
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings.
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Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme of the pyrimidine degradation pathway and a deficiency of this enzyme is responsible for a rare inborn metabolic syndrome characterized by dihydropyrimidinuria. Here we report a cat with DHP deficiency, manifesting malnutrition, depression,
[Determination of nucleosides in Rhizoma Pinelliae by high performance liquid chromatography].
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A high performance liquid chromatographic (HPLC) method was established to determine nucleosides in Rhizoma Pinelliae, which is a dried stem tuber of Pinellia pedatisecta Schott in Pinellia plant belonging to Araceae family and has multiple efficiencies about down-bear counterflow and check
Clinical phase I-II and pharmacokinetic study of high-dose thymidine given by continuous intravenous infusion.
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High-dose thymidine (dThd) was given to 12 patients with advanced hematological and solid tumors. The dose schedule used was 75 g/sq m/day, given i.v. continuously for 5 days or more. Myelosuppression, especially leukopenia, was the dose-limiting toxicity. Nonhematological toxicities affected the
Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry.
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The chiral metabolites 3-hydroxyisobutyric acid (HIBA) and 3-aminoisobutyric acid (AIBA) are intermediates in the pathways of L-valine and thymine and play an important role in the diagnosis of the very rare inherited metabolic diseases 3-hydroxyisobutyric aciduria (McKusick 236975) and
Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.
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Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder most often caused by mutations in the arginine-vasopressin receptors or aquaporin channels, which subsequently impairs the water reabsorption in the kidney. This case report describes a 15-year-old female diagnosed with NDI after an
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