| Variability in clinical expression of Menkes syndrome. | |
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MedLine Citation:
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PMID: 3234433 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups: one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed. |
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Authors:
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A M Gerdes; T Tønnesen; E Pergament; C Sander; K E Baerlocher; R Wartha; F Güttler; N Horn |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: European journal of pediatrics Volume: 148 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 1988 Nov |
Date Detail:
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Created Date: 1989-05-01 Completed Date: 1989-05-01 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 132-5 Citation Subset: IM |
Affiliation:
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John F. Kennedy Institute, Glostrup, Denmark. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain Diseases, Metabolic*
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genetics Copper / therapeutic use Humans Infant, Newborn Menkes Kinky Hair Syndrome* / drug therapy, genetics Prognosis |
| Chemical | |
Reg. No./Substance:
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7440-50-8/Copper |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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