Glutaric aciduria type II

Graziella Uziel

doi:10.1007/BF02815054

Glutaric aciduria type II

Graziella Uziel

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

Abstract

1. Our patient has riboflavin-sensitive glutaric aciduria type II but with a very unusual presentation. None of the other patients we have seen (7 in all) have, for instance, presented with ataxia. 2. Glutaric aciduria type II can cause brain damage in spite of the absence of acute metabolic distress. An abnormality of white matter is a common feature of different metabolic disorders and is not only the expression of irreversible degenerative diseases.

Original language	English
Pages (from-to)	81-83
Number of pages	3
Journal	Molecular and Chemical Neuropathology
Volume	27
Issue number	1
DOIs	https://doi.org/10.1007/BF02815054
Publication status	Published - Jan 1996

ASJC Scopus subject areas

Molecular Biology
Clinical Neurology
Neuroscience(all)

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title = "Glutaric aciduria type II",

abstract = "1. Our patient has riboflavin-sensitive glutaric aciduria type II but with a very unusual presentation. None of the other patients we have seen (7 in all) have, for instance, presented with ataxia. 2. Glutaric aciduria type II can cause brain damage in spite of the absence of acute metabolic distress. An abnormality of white matter is a common feature of different metabolic disorders and is not only the expression of irreversible degenerative diseases.",

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AB - 1. Our patient has riboflavin-sensitive glutaric aciduria type II but with a very unusual presentation. None of the other patients we have seen (7 in all) have, for instance, presented with ataxia. 2. Glutaric aciduria type II can cause brain damage in spite of the absence of acute metabolic distress. An abnormality of white matter is a common feature of different metabolic disorders and is not only the expression of irreversible degenerative diseases.

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Glutaric aciduria type II

Abstract

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