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As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.Articles
Neonatal Citrullinaemia Type I Complicated by Hyperinsulinaemic Hypoglycaemia: Challenges in Managing Dual Metabolic Pathways
Conflicts of Interest The authors declare no conflicts of interest. Data Availability Statement The data that support the findings of this study are available from the corresponding author upon reasonable request. Supporting Information Filename Description jpc70514-sup-0001-Supinfo1.pngPNG image, 141.5 KB Data S1: jpc70514-sup-0001-Supinfo1.png. jpc70514-sup-0002-Supinfo2.docxWord 2007 document , 131.8 KB Data S2: jpc70514-sup-0002-Supinfo2.docx.
Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center
Conflicts of Interest The authors declare no conflicts of interest. Data Availability Statement The datasets generated during the current study are not publicly available. Given the small cohort size and the rare nature of the underlying inherited metabolic disorders, the risk of re-identification cannot be fully excluded despite de-identification efforts.
Evidence of docosahexaenoic acid deficiency in maple syrup urine disease: insights from plasma long-chain polyunsaturated fatty acid status
Abstract Maple syrup urine disease (MSUD) is an inherited metabolic disorder requiring protein restriction, often limiting intake of animal-derived foods. This raises concerns about long-chain polyunsaturated fatty acid (LC-PUFA) status. The primary aim of this study is to evaluate plasma n–3 and n–6 fatty acid levels in MSUD patients. This single-center, cross-sectional study included 16 MSUD patients and 22 unaffected siblings sharing a similar household and environmental background.
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