| Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency. | |
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MedLine Citation:
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PMID: 15505378 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Biventricular hypertrophy was noted at 24 weeks' gestation in a fetus with isolated cytochrome-c oxidase (COX) deficiency. Shock, caused by hypertrophic cardiomyopathy and severe pulmonary hypertension, led to the patient's death on day 6. His phenotype defines a new lethal variant of COX deficiency characterized by prenatal-onset cardiopulmonary pathophysiology. |
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Authors:
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C P Venditti; M C Harris; D Huff; I Peterside; D Munson; H S Weber; J Rome; E M Kaye; S Shanske; S Sacconi; S Tay; S DiMauro; G T Berry |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 27 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2004 |
Date Detail:
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Created Date: 2004-10-26 Completed Date: 2005-05-05 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 735-9 Citation Subset: IM |
Affiliation:
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Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis
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genetics Adult Cardiomegaly / congenital, genetics Cardiomyopathies / congenital*, genetics* Citrate (si)-Synthase / deficiency, genetics Cytochrome-c Oxidase Deficiency / genetics* Echocardiography Electron Transport / genetics Female Fetal Diseases / genetics Humans Hypertension, Pulmonary / congenital*, genetics* Infant, Newborn Lactates / metabolism Male Muscle, Skeletal / pathology Phenotype Pregnancy Ultrasonography, Prenatal |
| Grant Support | |
ID/Acronym/Agency:
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NS11766/NS/NINDS NIH HHS; P01HD32062/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Lactates; EC 2.3.3.1/Citrate (si)-Synthase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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