Recommendations for the nutrition management of phenylalanine hydroxylase deficiency (Q37570443)

21 August 2017

1 reference

25 April 2019

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency (English)

1 reference

21 August 2017

1 reference

25 April 2019

1 reference

PubMed publication ID

24385075

medical guideline

1 reference

PubMed publication ID

10

Phyllis B Acosta

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author name string

Rani H Singh

1

1 reference

21 August 2017

Fran Rohr

2

1 reference

21 August 2017

Dianne Frazier

3

1 reference

21 August 2017

Amy Cunningham

4

1 reference

21 August 2017

Shideh Mofidi

5

1 reference

21 August 2017

Beth Ogata

6

1 reference

21 August 2017

Patricia L Splett

7

1 reference

21 August 2017

Kathryn Moseley

8

1 reference

21 August 2017

Kathleen Huntington

9

1 reference

21 August 2017

Jerry Vockley

11

1 reference

21 August 2017

Sandra C Van Calcar

12

1 reference

21 August 2017

language of work or name

English

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publication date

2 January 2014

1 reference

21 August 2017

1 February 2014

3 references

24 March 2019

22 April 2019

25 April 2019

4 references

21 August 2017

24 March 2019

22 April 2019

25 April 2019

16

1 reference

21 August 2017

2

1 reference

21 August 2017

121-131

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Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

21 August 2017

3 references

24 March 2019

22 April 2019

on focus list of Wikimedia project

25 April 2019

ScienceSource

0 references

cites work

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Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)).

23 August 2017

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Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide a new alternative to amino Acid-based medical foods for nutrition management of phenylketonuria

23 August 2017

1 reference

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Recommendations for the use of sapropterin in phenylketonuria

23 August 2017

1 reference

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Nutritional Management of Phenylketonuria

23 August 2017

1 reference

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Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria

23 August 2017

1 reference

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Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria

23 August 2017

1 reference

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Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes

23 August 2017

1 reference

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Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids

23 August 2017

1 reference

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Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature

23 August 2017

1 reference

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Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis

23 August 2017

1 reference

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The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

23 August 2017

1 reference

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The Maternal Phenylketonuria International Study: 1984-2002.

23 August 2017

1 reference

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Dietary reference intakes for energy, carbohydrate, fiber, fat, fatty acids, cholesterol, protein and amino acids

23 August 2017

1 reference

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Protein insufficiency and linear growth restriction in phenylketonuria

23 August 2017

1 reference

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National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

23 August 2017

1 reference

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Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids

23 August 2017

1 reference

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"Hypotyrosinemia" in phenylketonuria

23 August 2017

1 reference

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Randomised controlled trial of tyrosine supplementation on neuropsychological performance in phenylketonuria

23 August 2017

1 reference

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Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet

23 August 2017

1 reference

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Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys.

23 August 2017

1 reference

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High prevalence of overweight and obesity in females with phenylketonuria

6 September 2017

1 reference

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

6 September 2017

1 reference

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Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

6 September 2017

1 reference

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Vitamin B12 deficiency and phenylketonuria

6 September 2017

1 reference

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Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma

6 September 2017

1 reference

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The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

6 September 2017

1 reference

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Mineral and trace-metal balances in children receiving normal and synthetic diets

25 June 2018

1 reference

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Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid and urea nitrogen concentrations in humans

25 June 2018

1 reference

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Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: a new biomarker.

25 June 2018

1 reference

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Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.

1 September 2018

1 reference

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Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

1 September 2018

1 reference

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Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia

1 September 2018

1 reference

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Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Late-treated phenylketonuria and partial reversibility of intellectual impairment

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

The use of prealbumin concentration as a biomarker of nutritional status in treated phenylketonuric patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Psychiatric symptoms and disorders in phenylketonuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Blood phenylalanine control in adolescents with phenylketonuria.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

A different approach to breast-feeding of the infant with phenylketonuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Phenylketonuria in adulthood: a collaborative study

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

New approach to osteopenia in phenylketonuric patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Nutrient intake and congenital heart defects in maternal phenylketonuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Associations between phenylalanine-to-tyrosine ratios and performance on tests of neuropsychological function in adolescents treated early and continuously for phenylketonuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Intake and blood levels of fatty acids in treated patients with phenylketonuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Iron and protein sufficiency and red cell indices in phenylketonuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Bone mineral status in children with phenylketonuria under treatment

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Decreased bone mineralization in children with phenylketonuria under treatment

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Vitamin B-6 status of school-aged patients with phenylketonuria

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918542

Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038/GIM.2013.179

The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038/GIM.2013.179

Vitamin B12 deficiency in adolescents and young adults with phenylketonuria

21 January 2018

1 reference

12 December 2020

Large neutral amino acids in daily practice

1 reference

12 December 2020

Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU)

1 reference

12 December 2020

PKU adults and their return to diet: predicting diet continuation and maintenance

1 reference

12 December 2020

Effects of a low selenium state in patients with phenylketonuria

1 reference

12 December 2020

Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations

1 reference

12 December 2020

Decreased bone mineral density in children with phenylketonuria

1 reference

12 December 2020

Cutaneous findings in a 51-year-old man with phenylketonuria

1 reference

12 December 2020

Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria

1 reference

12 December 2020

Kinetics of L-[1-(13)C]leucine when ingested with free amino acids, unlabeled or intrinsically labeled casein

1 reference

12 December 2020

Breastfeeding in the treatment of children with phenylketonuria

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2013.179

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24385075

1 reference