4 Result(s)
within
Medicine & Public Health
Endocrinology
Internal Medicine
M. T. Dotti
-
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...
-
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...
-
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 ...
-
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...
