Found: 22
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Caregiver Quality of Life with Tyrosinemia Type 1.
- Published in:
- Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 723, doi. 10.1007/s10897-017-0157-9
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- Publication type:
- Article
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Bone health in phenylketonuria: a systematic review and meta-analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0232-y
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- Publication type:
- Article
Bone health in phenylketonuria: a systematic review and meta-analysis.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A Randomized, Controlled Trial of Treatment of Alcoholic Hepatitis with Parenteral Nutrition and Oxandrolone. II. Short-Term Effects on Nitrogen Metabolism, Metabolic Balance, and Nutrition.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1991, v. 86, n. 9, p. 1209
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- Publication type:
- Article
One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4).
- Published in:
- 2018
- By:
- Publication type:
- journal article
Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Total choline intake and working memory performance in adults with phenylketonuria.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02842-y
- By:
- Publication type:
- Article
Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02751-0
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- Publication type:
- Article
Food insecurity in females with phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 103, doi. 10.1002/jmd2.12115
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- Publication type:
- Article
Large neutral amino acid status in association with P:T ratio and diet in adult and pediatric patients with phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 50, doi. 10.1002/jmd2.12076
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- Publication type:
- Article
Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Comparison of 5 anthropometric skinfold formulas to air displacement plethysmography (ADP) when predicting body fat composition in female adolescents with phenylketonuria (PKU).
- Published in:
- FASEB Journal, 2008, v. 22, p. 743, doi. 10.1096/fasebj.22.2_supplement.743
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- Publication type:
- Article
Relationship between medical food type consumption and plasma polyunsaturated fatty acid status of females of childbearing age with phenylketonuria.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A706
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- Publication type:
- Article
Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride.
- Published in:
- Health & Quality of Life Outcomes, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1477-7525-11-218
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- Publication type:
- Article
Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists.
- Published in:
- Journal of Primary Care & Community Health, 2021, v. 12, p. 1, doi. 10.1177/21501327211046734
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- Publication type:
- Article
Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists.
- Published in:
- Journal of Primary Care & Community Health, 2021, p. 1, doi. 10.1177/21501327211046734
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- Publication type:
- Article
Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
- Published in:
- Nutrition Research Reviews, 2019, v. 32, n. 1, p. 70, doi. 10.1017/S0954422418000173
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- Publication type:
- Article
The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders.
- Published in:
- Journal of Evaluation in Clinical Practice, 2015, v. 21, n. 6, p. 1235, doi. 10.1111/jep.12428
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- Publication type:
- Article
Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines.
- Published in:
- Journal of Evaluation in Clinical Practice, 2013, v. 19, n. 4, p. 584, doi. 10.1111/j.1365-2753.2011.01807.x
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- Publication type:
- Article
Characterization of Choline Nutriture among Adults and Children with Phenylketonuria.
- Published in:
- Nutrients, 2022, v. 14, n. 19, p. 4056, doi. 10.3390/nu14194056
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- Publication type:
- Article