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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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-022-02468-6 |
