| Congenital generalized lipodystrophy, a case report. | |
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MedLine Citation:
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PMID: 8629139 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Generalized lipodystrophy is a rare condition which can be divided into congenital and acquired types, based on the age at presentation and pattern of inheritance. The congenital type of generalized lipodystrophy or Lawrence-Seip syndrome presents in first two years of life and is inherited in an autosomal recessive pattern. The diagnosis is made on the basis of loss of body fat, muscular hypertrophy, acanthosis nigricans, hirsutism, hepatomegaly with fatty liver, hyperlipidemia and hyperglycemia with insulin resistance. A 2 1/2-year-old Thai girl with the clinical features of Lawrence-Seip syndrome is reported. Abnormal platelet function was detected in this girl. |
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Authors:
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S Wacharasindhu; K Veerakul; S Likitmaskul; L Punnakanta; K Angsusingha; C Tuchinda; P Wasant |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Southeast Asian journal of tropical medicine and public health Volume: 26 Suppl 1 ISSN: 0125-1562 ISO Abbreviation: Southeast Asian J. Trop. Med. Public Health Publication Date: 1995 |
Date Detail:
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Created Date: 1996-06-26 Completed Date: 1996-06-26 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0266303 Medline TA: Southeast Asian J Trop Med Public Health Country: THAILAND |
Other Details:
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Languages: eng Pagination: 44-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Siriraj Hospital, Mahidol University, Bangkok, Thailand. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Blood Platelets
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physiology Child, Preschool Fatty Liver / pathology Female Genes, Recessive Glucagon / blood Humans Lipodystrophy / genetics*, pathology, physiopathology Liver / pathology Muscle, Skeletal / pathology Nuclear Family Platelet Aggregation Reference Values Syndrome |
| Chemical | |
Reg. No./Substance:
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9007-92-5/Glucagon |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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