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This study tested the hypothesis that corals of the same species, but of varying size and shape, may respond differently to thermal stress because of different mass transfer capacities. High mass transfer rates are an advantage under thermal stress, and mass transfer rates are assumed to scale with size. Yet large, corymbose Acropora colonies are more(More)
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)
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)
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)
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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