20 LATEST RESOURCES (19 INDEXED)
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Paracetamol Toxicity in Classic Homocystinuria: Effect of N-Acetylcysteine on Total Homocysteine · March 2023
Articles
JIMD Reports
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Resistance Exercise Training with Protein Supplementation Improves Skeletal Muscle Strength and Improves Quality of Life in Late Adolescents and Young Adults with Barth Syndrome: A Pilot Study · August 2021
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JIMD Reports
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Dietary Management and Growth Outcomes in Children with Propionic Acidemia: A Natural History Study · June 2021
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JIMD Reports
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Early‐Onset Vitamin B6‐Dependent Epilepsy Due to Pathogenic PLPBP Variants in a Premature Infant: A Case Report and Review of the Literature · November 2020
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JIMD Reports
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Early‐Onset Coenzyme Q10 Deficiency Associated with Ataxia and Respiratory Chain Dysfunction Due to Novel Pathogenic COQ8A Variants, Including a Large Intragenic Deletion · June 2020
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JIMD Reports
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Simplified Diet for Nutrition Management of Phenylketonuria: A Survey of U.S. Metabolic Dietitians · April 2020
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JIMD Reports
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The Nutritional Status of People with Alkaptonuria: An Exploratory Analysis Suggests a Protein/Energy Dilemma · March 2020
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JIMD Reports
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Use of Complementary and Alternative Medicine in Patients with Inborn Errors of Metabolism: A Single-Center Study · December 2019
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JIMD Reports
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Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency · February 2017
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NCBI>JIMD Reports
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Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria · September 2016
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NCBI>JIMD Reports
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Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study · June 2016
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NCBI>JIMD Reports
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Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with Phenylketonuria · March 2015
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NCBI>JIMD Reports
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Cognitive Function in Adults Aging with Fabry Disease: A Case-Control Feasibility Study Using Telephone-Based Assessments · January 2015
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NCBI>JIMD Reports
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Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood · February 2014
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NCBI>JIMD Reports
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Dietary Habits and Metabolic Control in Adolescents and Young Adults with Phenylketonuria: Self-Imposed Protein Restriction May Be Harmful · November 2013
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NCBI>JIMD Reports
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High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria · October 2013
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NCBI>JIMD Reports
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Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)) · October 2012
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NCBI>JIMD Reports
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Epilepsy in Biotinidase Deficiency After Biotin Treatment · November 2011
Articles
NCBI>JIMD Reports
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Dietary Protein Counting as an Alternative Way of Maintaining Metabolic Control in Phenylketonuria · September 2011
Articles
NCBI>JIMD Reports