Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene

Journal article

Peer reviewed

A G Bassuk, A Joshi, B K Burton, M B Larsen, D M Burrowes and C Stack

Neurology, Vol.61(7), pp.1014-1015

10/14/2003

DOI: 10.1212/01.WNL.0000082440.42354.D0

PMID: 14557587

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no abstract | clinical/scientific notes

Electroencephalography

Lipid Metabolism

Magnetic Resonance Imaging

Mutation

Choline - metabolism

Glial Fibrillary Acidic Protein - genetics

Frontal Lobe - metabolism

Humans

Basal Ganglia - metabolism

Infant

Male

DNA Mutational Analysis

Creatine - metabolism

Fatal Outcome

Alexander Disease - genetics

Acidosis, Respiratory - etiology

Magnetic Resonance Spectroscopy

Lactic Acid - metabolism

Alexander Disease - metabolism

Basal Ganglia - pathology

Disease Progression

Head - abnormalities

Seizures - etiology

Alexander Disease - diagnosis

Frontal Lobe - pathology

Title: Subtitle: Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene
Creators: A G Bassuk - Division of Neurology/Department of Pediatrics, Children's Memorial Hospital, Chicago, IL 60614, USA. abassuk@childrensmemorial. org
A Joshi
B K Burton
M B Larsen
D M Burrowes
C Stack
Resource Type: Journal article
Publication Details: Neurology, Vol.61(7), pp.1014-1015
Publisher: United States
DOI: 10.1212/01.WNL.0000082440.42354.D0
PMID: 14557587
ISSN: 0028-3878
eISSN: 1526-632X
Language: English
Date published: 10/14/2003
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984020731402771

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