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Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.155-155, Article 155

2023

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Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Genetics in medicine, 2014-02, Vol.16 (2), p.121-131

2014

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Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

Nutrients, 2020-10, Vol.12 (10), p.3162

2020

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Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Orphanet journal of rare diseases, 2024-08, Vol.19 (1), p.293-51, Article 293

2024

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Meta-analysis of bone mineral density in adults with phenylketonuria

Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.338-22, Article 338

2024

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Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101015-101015, Article 101015

2023

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Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Nutrients, 2023-09, Vol.15 (18), p.3940

2023

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Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University

Second edition, 2022

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Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase

Molecular genetics and metabolism reports, 2021-09, Vol.28, p.100771, Article 100771

2021

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Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100555, Article 100555

2020

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Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians

JIMD reports, 2020-05, Vol.53 (1), p.83-89

2020

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P032: Systematic literature review of the prevalence and severity of somatic comorbidities in adults with phenylketonuria

Genetics in Medicine Open, 2023, Vol.1 (1), p.100042, Article 100042

2023

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Nutrition status of adults with phenylketonuria treated with pegvaliase

Molecular genetics and metabolism, 2021-08, Vol.133 (4), p.345-351

2021

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Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria

Data in brief, 2017-08, Vol.13, p.377-384

2017

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Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening

American journal of medical genetics. Part C, Seminars in medical genetics, 2024-09, p.e32111

2024

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Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data

Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108122-108122, Article 108122

2024

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Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

Molecular genetics and metabolism, 2018-11, Vol.125 (3), p.228-234

2018

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Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Genetics in medicine, 2019-08, Vol.21 (8), p.1851-1867

2019

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Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria

The Journal of nutrition, 2018-02, Vol.148 (2), p.194-201

2018

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International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Molecular genetics and metabolism, 2019-05, Vol.127 (1), p.1-11

2019

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Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria

Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.96-103

2017

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Role of medical food in MMA

Genetics in medicine, 2016-04, Vol.18 (4), p.413-414

2016

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Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines

Journal of evaluation in clinical practice, 2013-08, Vol.19 (4), p.584-590

2013

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Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective

Nutrition and dietary supplements, 2021-12, Vol.13, p.145-154

2021

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The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders

Journal of evaluation in clinical practice, 2015-12, Vol.21 (6), p.1235-1243

2015

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Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Meta-analysis of bone mineral density in adults with phenylketonuria

Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University

Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report

Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians

P032: Systematic literature review of the prevalence and severity of somatic comorbidities in adults with phenylketonuria

Nutrition status of adults with phenylketonuria treated with pegvaliase

Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria

Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening

Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria

Role of medical food in MMA

Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines

Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective

The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders

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