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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2001-5-8
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pubmed:abstractText |
We report a case of Alstrom syndrome with evidence of extensive hepatic disease diagnosed at five years of age, who subsequently developed acute liver failure and died at eight years of age. Such a case, with the patient dying before the age of ten, has not been described before. The biochemical findings during our patient's liver failure raised the question of a possible mitochondrial function defect in this syndrome. Further investigation of this possibility is needed.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0148-7299
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2001 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
101
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
9-11
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:11343329-Abnormalities, Multiple,
pubmed-meshheading:11343329-Age of Onset,
pubmed-meshheading:11343329-Child,
pubmed-meshheading:11343329-Diabetes Mellitus,
pubmed-meshheading:11343329-Disseminated Intravascular Coagulation,
pubmed-meshheading:11343329-Dwarfism,
pubmed-meshheading:11343329-Fatal Outcome,
pubmed-meshheading:11343329-Female,
pubmed-meshheading:11343329-Hearing Loss, Sensorineural,
pubmed-meshheading:11343329-Hepatic Encephalopathy,
pubmed-meshheading:11343329-Humans,
pubmed-meshheading:11343329-Hyperammonemia,
pubmed-meshheading:11343329-Liver Diseases,
pubmed-meshheading:11343329-Liver Failure, Acute,
pubmed-meshheading:11343329-Mitochondria, Liver,
pubmed-meshheading:11343329-Obesity,
pubmed-meshheading:11343329-Retinal Degeneration,
pubmed-meshheading:11343329-Syndrome,
pubmed-meshheading:11343329-Vision Disorders
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pubmed:year |
2001
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pubmed:articleTitle |
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome.
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pubmed:affiliation |
Department of Pediatrics, Division of Gastroenterology and Nutrition, UCLA Medical Center, 10833 Le Conte Ave., Los Angeles, CA 90095-1752, USA.
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pubmed:publicationType |
Journal Article,
Case Reports
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