| Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report. | |
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MedLine Citation:
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PMID: 20861782 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present brain imaging and spectroscopy data in a neonate with a confirmed classic form of nonketotic hyperglycinemia (NKH), an autosomal-recessive metabolic disorder characterized by accumulation of glycine. To our knowledge, this is the first report of such complete analysis of the changes seen on conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy at such an early age. The findings in a neonate are consistent with reports in older children with NKH, confirming that pathological changes typical for NKH can be seen in the first postnatal week. |
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Authors:
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Marko Culjat; Vesna Benjak; Andrea Dasovic-Buljevic; David Ozretic; Ksenija Fumic; Cécile Acquaviva; Ivo Baric |
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: Journal of computer assisted tomography Volume: 34 ISSN: 1532-3145 ISO Abbreviation: J Comput Assist Tomogr Publication Date: 2010 Sep-Oct |
Date Detail:
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Created Date: 2010-09-23 Completed Date: 2010-10-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7703942 Medline TA: J Comput Assist Tomogr Country: United States |
Other Details:
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Languages: eng Pagination: 762-5 Citation Subset: IM |
Affiliation:
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Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia. markoculjat@yahoo.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Anisotropy Diffusion Magnetic Resonance Imaging Female Glycine / metabolism Humans Hyperglycinemia, Nonketotic / metabolism, pathology* Infant, Newborn Magnetic Resonance Imaging Magnetic Resonance Spectroscopy |
| Chemical | |
Reg. No./Substance:
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56-40-6/Glycine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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