Publications:

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

The American Journal Of Clinical Nutrition

Ney, Denise M DM; Stroup, Bridget M BM; Clayton, Murray K MK; Murali, Sangita G SG; Rice, Gregory M GM; Rohr, Frances F; Levy, Harvey L HL

Publication Date: 2016-08

Variant appearance in text: PAH: P416Q

PubMed Link: 27413125

Variant Present in the following documents:

• Main text
• ajcn135293.pdf

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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

Orphanet Journal Of Rare Diseases

Anjema, Karen K; van Rijn, Margreet M; Hofstede, Floris C FC; Bosch, Annet M AM; Hollak, Carla E M CE; Rubio-Gozalbo, Estela E; de Vries, Maaike C MC; Janssen, Mirian C H MC; Boelen, Carolien C A CC; Burgerhof, Johannes G M JG; Blau, Nenad N; Heiner-Fokkema, M Rebecca MR; van Spronsen, Francjan J FJ

Publication Date: 2013-07-10

Variant appearance in text: PAH: P416Q

PubMed Link: 23842451

Variant Present in the following documents:

• Main text
• 1750-1172-8-103.pdf

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Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

Jimd Reports

Djordjevic, Maja M; Klaassen, Kristel K; Sarajlija, Adrijan A; Tosic, Natasa N; Zukic, Branka B; Kecman, Bozica B; Ugrin, Milena M; Spasovski, Vesna V; Pavlovic, Sonja S; Stojiljkovic, Maja M

Publication Date: 2013

Variant appearance in text: PAH: 1247C>A; P416Q

PubMed Link: 23430547

Variant Present in the following documents:

• Main text

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