Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.
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| Title: | Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency. |
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| Authors: | Pata S; Pediatric Research and Metabolism Unit, Reina Sofia University Hospital, University of Córdoba, 14010, Córdoba, Spain., Flores-Rojas K; Pediatric Research and Metabolism Unit, Reina Sofia University Hospital, University of Córdoba, 14010, Córdoba, Spain.; Maimónides Institute for Biomedical Research of Córdoba (IMIBIC), Córdoba, Spain., Gil A; Department of Biochemistry and Molecular Biology II, Institute of Nutrition and Food Technology 'José Mataix,' Biomedical Research Center, Parque Tecnológico de la Salud, University of Granada, Avenida del Conocimiento s/n, Armilla, 18100, Granada, Spain. agil@ugr.es.; Instituto de Investigación Biosanitaria IBS.GRANADA, Armilla, 18100, Granada, Spain. agil@ugr.es.; CIBEROBN (Physiopathology of Obesity and Nutrition), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain. agil@ugr.es., López-Laso E; Maimónides Institute for Biomedical Research of Córdoba (IMIBIC), Córdoba, Spain.; Pediatric Neurology Unit, Reina Sofia University Hospital, 14010, Córdoba, Spain.; CIBERER (Rare Diseases), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain., Marti-Sánchez L; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain., Baide-Mairena H; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain., Pérez-Dueñas B; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain., Gil-Campos M; Pediatric Research and Metabolism Unit, Reina Sofia University Hospital, University of Córdoba, 14010, Córdoba, Spain.; Maimónides Institute for Biomedical Research of Córdoba (IMIBIC), Córdoba, Spain.; CIBEROBN (Physiopathology of Obesity and Nutrition), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 05; Vol. 17 (1), pp. 340. Date of Electronic Publication: 2022 Sep 05. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36064416 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pata+S%22">Pata S</searchLink>; Pediatric Research and Metabolism Unit, Reina Sofia University Hospital, University of Córdoba, 14010, Córdoba, Spain.<br /><searchLink fieldCode="AU" term="%22Flores-Rojas+K%22">Flores-Rojas K</searchLink>; Pediatric Research and Metabolism Unit, Reina Sofia University Hospital, University of Córdoba, 14010, Córdoba, Spain.; Maimónides Institute for Biomedical Research of Córdoba (IMIBIC), Córdoba, Spain.<br /><searchLink fieldCode="AU" term="%22Gil+A%22">Gil A</searchLink>; Department of Biochemistry and Molecular Biology II, Institute of Nutrition and Food Technology 'José Mataix,' Biomedical Research Center, Parque Tecnológico de la Salud, University of Granada, Avenida del Conocimiento s/n, Armilla, 18100, Granada, Spain. agil@ugr.es.; Instituto de Investigación Biosanitaria IBS.GRANADA, Armilla, 18100, Granada, Spain. agil@ugr.es.; CIBEROBN (Physiopathology of Obesity and Nutrition), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain. agil@ugr.es.<br /><searchLink fieldCode="AU" term="%22López-Laso+E%22">López-Laso E</searchLink>; Maimónides Institute for Biomedical Research of Córdoba (IMIBIC), Córdoba, Spain.; Pediatric Neurology Unit, Reina Sofia University Hospital, 14010, Córdoba, Spain.; CIBERER (Rare Diseases), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Marti-Sánchez+L%22">Marti-Sánchez L</searchLink>; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Baide-Mairena+H%22">Baide-Mairena H</searchLink>; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Pérez-Dueñas+B%22">Pérez-Dueñas B</searchLink>; Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Gil-Campos+M%22">Gil-Campos M</searchLink>; Pediatric Research and Metabolism Unit, Reina Sofia University Hospital, University of Córdoba, 14010, Córdoba, Spain.; Maimónides Institute for Biomedical Research of Córdoba (IMIBIC), Córdoba, Spain.; CIBEROBN (Physiopathology of Obesity and Nutrition), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2022 Sep 05; Vol. 17 (1), pp. 340. <i>Date of Electronic Publication: </i>2022 Sep 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36064416 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-022-02468-6 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 340 Titles: – TitleFull: Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pata S – PersonEntity: Name: NameFull: Flores-Rojas K – PersonEntity: Name: NameFull: Gil A – PersonEntity: Name: NameFull: López-Laso E – PersonEntity: Name: NameFull: Marti-Sánchez L – PersonEntity: Name: NameFull: Baide-Mairena H – PersonEntity: Name: NameFull: Pérez-Dueñas B – PersonEntity: Name: NameFull: Gil-Campos M IsPartOfRelationships: – BibEntity: Dates: – D: 05 M: 09 Text: 2022 Sep 05 Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 17 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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