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Creatine transporter deficiency (CTD) is an example of X-linked intellectual disability syndromes, caused by mutations in SLC6A8 on Xq28. Although this is the second most frequent genetic cause of intellectual disabilities in Europe or America after Fragile X syndrome, information on the morbidity of this disease is limited in Japan. Using the HPLC(More)
Eight young thoroughbred horses, taken 1858 km by road (travelling time, 41 h), were examined to assess the pathological nature of respiratory disease associated with transport. Three of the horses showed clinical abnormalities including pyrexia, coughing, leucocytosis and neutrophilia after the first 20 h of transportation. Endoscopical examination of the(More)
BACKGROUND The effectiveness of short-term 3,5,3'-triiodothyroacetic acid (TRIAC) therapy for the treatment of hyperthyroidism caused by thyroid hormone resistance (RTH) has been documented. Here, we report a 3-year course of TRIAC therapy in an RTH boy, with a quantitative evaluation of the therapeutic effects and pharmacological study of TRIAC. PATIENT(More)
Aberrations in the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway constitute a subclass of congenital disorders of glycosylation, and mutations in seven genes involved in this pathway have been identified. Among them, mutations in PIGV and PIGO, which are involved in the late stages of GPI-anchor synthesis, and PGAP2, which is involved in(More)
BACKGROUND Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorder, caused by defects in the DDC gene. AADC catalyzes the synthesis of the neurotransmitters dopamine and serotonin from l-dopa and 5-HT respectively. Most patients are bed ridden for life, with little response to treatment. We now report one female patient who(More)
Vanishing white matter disease (VWM)/childhood ataxia with central hypomyelination (CACH) is an autosomal recessive leukoencephalopathy caused by mutations in one of five genes, EIF2B1-5, encoding the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B). The classical phenotype is characterized by early childhood onset and chronic progressive(More)
We investigated the prognoses of 103 children with acute encephalopathy at more than one year from the onset. The patients were divided into five groups according to the clinical courses during the acute stage;group 1:1 case with metabolic disorder, group, 2:24 with cytokine storms, group, 3:68 with prolonged convulsion more than 30 minutes, group, 4:5 with(More)
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