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- W2497619345 abstract "Summary In this paper a case history is described of a young male patient who gradually developed progressive personality changes and psychiatric complaints. This was subsequently followed by neurological symptoms and dementia. The patient appeared to be suffering from the adult form of metachromatic leucodystrophy (MLD). MLD is a rare disease with an autosomal-recessive mode of inheritance. The pathogenesis involves a deficiency of the enzyme arylsulfatase-A, causing sulfatide accumulation in (among others) nervous tissue. Based upon a review of the literature several subtypes of MLD are mentioned. Both diagnostic aspects and therapeutic possibilities are critically discussed. It is argued that in cases of psychiatric complaints which do not easily fit in the diagnostic framework of the DSM-III-R in adolescence, the existence of neuropsychiatric diseases should be evaluated." @default.
- W2497619345 created "2016-08-23" @default.
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- W2497619345 date "1993-03-01" @default.
- W2497619345 modified "2023-09-25" @default.
- W2497619345 title "Puberty or heridity?" @default.
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- W2497619345 doi "https://doi.org/10.1017/s0924270800034050" @default.
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