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)

Access to Document

10.1007/BF02815054

Fingerprint Dive into the research topics of 'Glutaric aciduria type II'. Together they form a unique fingerprint.

Cite this

@article{02b3f5ccbeb14e1e879d78e3a31e6a61,

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.",

author = "Graziella Uziel",

year = "1996",

month = jan,

doi = "10.1007/BF02815054",

language = "English",

volume = "27",

pages = "81--83",

journal = "Journal of Molecular Neuroscience",

issn = "0895-8696",

publisher = "Humana Press",

number = "1",

}

TY - JOUR

T1 - Glutaric aciduria type II

AU - Uziel, Graziella

PY - 1996/1

Y1 - 1996/1

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=77951504729&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77951504729&partnerID=8YFLogxK

U2 - 10.1007/BF02815054

DO - 10.1007/BF02815054

M3 - Article

AN - SCOPUS:77951504729

VL - 27

SP - 81

EP - 83

JO - Journal of Molecular Neuroscience

JF - Journal of Molecular Neuroscience

SN - 0895-8696

IS - 1

ER -