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  1. No Access

    Article

    Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis

    M. Brienza, G. Fiermonte, C. Cambieri… in Journal of Inherited Metabolic Disease (2015)

  2. No Access

    Article

    Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings

    Cerebrontendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease involving lipid metabolism. The classical phenotype is characterized by neurological dysfunction, tendon xanthomas and...

    M. T. Dotti, A. Rufa, A. Federico in Journal of Inherited Metabolic Disease (2001)

  3. No Access

    Article

    Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegia

    A. Federico, L. Manneschi, P. Sabatelli… in Journal of Inherited Metabolic Disease (1988)

  4. No Access

    Article

    Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder

    A. Federico, M. T. Dotti, P. Annunziata… in Journal of Inherited Metabolic Disease (1988)

  5. No Access

    Article

    Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels

    A. Federico, G. Baracchini, M. T. Dotti, L. Ibba… in Journal of Inherited Metabolic Disease (1988)

  6. No Access

    Article

    Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy

    A. Federico, L. Manneschi, M. Meloni… in Journal of Inherited Metabolic Disease (1988)

  7. No Access

    Chapter

    Adrenomyeloneurodystrophy with Late Cerebral Involvement and Evidence of a Multiple Autoimmune Disorder

    The classical form of adrenoleukodystrophy (ALD; McKusick 20237) has infantile onset. Adrenomyeloneurodystrophy (AMN), having genetic, biochemical and ultrastructural features closely correlated to those of AL...

    A. Federico, M. T. Dotti, P. Annunziata… in Studies in Inherited Metabolic Disease (1988)

  8. No Access

    Chapter

    Infanto-Juvenile Encephaloneuropathy and Pigmentary Retinopathy in a Girl Associated with Congenital Adrenal Insufficiency and Altered Plasma Medium-Chain Fatty Acid Levels

    The combination of adrenocortical insufficiency, pigmentary retinopathy, seizures, peripheral neuropathy and hepatomegaly was first reported by Dyck et al. (1981) in two male subjects and was associated with decr...

    A. Federico, G. Baracchini, M. T. Dotti, L. Ibba… in Studies in Inherited Metabolic Disease (1988)

  9. No Access

    Chapter

    Histochemical, Ultrastructural and Biochemical Study of Muscle Mitochondria in Leber’s Hereditary Optic Atrophy

    Leber’s hereditary optic atrophy (McKusick 30890) is characterized by severe abiotrophy of the pregeniculate optic pathway with acute onset in young adults, often without any other neurological symptoms. Most ...

    A. Federico, L. Manneschi, M. Meloni… in Studies in Inherited Metabolic Disease (1988)

  10. No Access

    Chapter

    Morphometric and Biochemical Study of Muscle Mitochondria in Adult Chronic Progressive External Ophthalmoplegia

    Adult chronic progressive external ophthalmoplegia (ACPEO) is characterized by slowly progressive paralysis of the extraocular muscles, with or without other neurological manifestations. The presence of ragged...

    A. Federico, L. Manneschi, P. Sabatelli… in Studies in Inherited Metabolic Disease (1988)

  11. No Access

    Article

    Electrocardiographic abnormalities in Leber's hereditary optic atrophy

    A. Federico, P. Aitiani, B. Lomonaco… in Journal of Inherited Metabolic Disease (1987)