Glutaric aciduria type II

Graziella Uziel

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)81-83
Number of pages3
JournalMolecular and Chemical Neuropathology
Volume27
Issue number1
DOIs
Publication statusPublished - Jan 1996

Fingerprint

Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin
Ataxia
Brain

ASJC Scopus subject areas

  • Molecular Biology
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Glutaric aciduria type II. / Uziel, Graziella.

In: Molecular and Chemical Neuropathology, Vol. 27, No. 1, 01.1996, p. 81-83.

Research output: Contribution to journalArticle

Uziel, Graziella. / Glutaric aciduria type II. In: Molecular and Chemical Neuropathology. 1996 ; Vol. 27, No. 1. pp. 81-83.
@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 = "1",
doi = "10.1007/BF02815054",
language = "English",
volume = "27",
pages = "81--83",
journal = "Molecular and Chemical Neuropathology",
issn = "1044-7393",
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

VL - 27

SP - 81

EP - 83

JO - Molecular and Chemical Neuropathology

JF - Molecular and Chemical Neuropathology

SN - 1044-7393

IS - 1

ER -