Titlebook: JIMD Reports, Volume 39; Eva Morava (Editor-in-Chief),Matthias Baumgartner, Book 2018 Society for the Study of Inborn Errors of Metabolism

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书目名称JIMD Reports, Volume 39影响因子(影响力)




书目名称JIMD Reports, Volume 39影响因子(影响力)学科排名




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书目名称JIMD Reports, Volume 39网络公开度学科排名




书目名称JIMD Reports, Volume 39被引频次




书目名称JIMD Reports, Volume 39被引频次学科排名




书目名称JIMD Reports, Volume 39年度引用




书目名称JIMD Reports, Volume 39年度引用学科排名




书目名称JIMD Reports, Volume 39读者反馈




书目名称JIMD Reports, Volume 39读者反馈学科排名

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Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency,acid profile was in the normal range indicating an adequate nutritional support. Pregnancy progressed uneventful and the patient gave birth to a healthy boy without any complication..A careful clinical monitoring associated with an adequate medical/nutritional management may improve pregnancy outcome in women with MADD.

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Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficieccessfully treated by triheptanoin. The child was managed, thereafter, on triheptanoin until her death at 3 years of age from a cardiopulmonary arrest in the setting of acute respiratory illness superimposed on chronic hypercarbic respiratory failure.

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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Teoyl-CoA hydratase, a mitochondrial enzyme encoded by the . gene, was markedly decreased in lymphocytes. Retrospective urine analysis confirms that elevated levels of .-(2-carboxypropyl)cysteamine, .-(2-carboxypropyl)cysteine, and .-acetyl-.-(2-carboxypropyl)cysteine can be a diagnostic clue in the disease spectrum of . mutations.

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978-3-662-57576-5Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

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