| Familial benign copper deficiency: an old case re-examined. | |
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MedLine Citation:
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PMID: 2978614 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Seven years follow-up and re-examinations of a boy and his mother with "familial benign copper deficiency" revealed repeatedly subnormal serum copper and normal caeruloplasmin levels with relatively good psychosomatic development in the 9-year-old index patient. 64Cu-uptake was elevated in the mother's and normal in the proband's fibroblasts. The pathomechanism of the condition remained unknown, but the biochemical findings and the clinical course did not correspond to any of the previously described forms of congenital defects of copper metabolism. |
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Authors:
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K Méhes; E Petrovicz |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Acta paediatrica Hungarica Volume: 29 ISSN: 0001-6527 ISO Abbreviation: Acta Paediatr Hung Publication Date: 1988-1989 |
Date Detail:
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Created Date: 1989-12-26 Completed Date: 1989-12-26 Revised Date: 2006-07-19 |
Medline Journal Info:
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Nlm Unique ID: 8307729 Medline TA: Acta Paediatr Hung Country: HUNGARY |
Other Details:
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Languages: eng Pagination: 313-5 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, University Medical School, Pécs, Hungary. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Ceruloplasmin / analysis* Child Copper / deficiency*, metabolism, therapeutic use Dermatitis, Seborrheic / etiology Female Fibroblasts / metabolism Follow-Up Studies Hair Diseases / etiology Humans Male Metabolism, Inborn Errors / blood*, drug therapy Seizures / etiology |
| Chemical | |
Reg. No./Substance:
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7440-50-8/Copper; EC 1.16.3.1/Ceruloplasmin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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