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  1. No Access

    Article

    Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II

    We report a 4-year-old boy with hyperprolinaemia type II presenting acute encephalopathy associated with influenza virus type A infection. This case suggests that hyperprolinaemia may cause acute encephalopath...

    Y. Kato, K. Ihara, K. Miyako, T. Kuhara, Y. Inoue… in Journal of Inherited Metabolic Disease (2005)

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    Article

    Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples

    Propionic acidaemia (PCCD) or deficiency of propionyl-CoA carboxylase (PCC) is one of the most common organic acidaemias. Recent studies have suggested that this disease can cause somatic or cognitive deterior...

    T. Kuhara, M. Ohse, Y. Inoue, T. Yorifuji… in Journal of Inherited Metabolic Disease (2002)

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    Article

    Erythematous skin lesions and partial deficiency of 3-methylcrotonyl-CoA carboxylase in peripheral lymphocytes in a patient with propionic acidaemia

    M. Yoshino, S. Aramaki, F. Yamashita, K. Sato… in Journal of Inherited Metabolic Disease (1991)