Use of sapropterin in the management of phenylketonuria: Seven case reports

H. Gokmen Ozel; A. M. Lammardo; K. Motzfeldt; J. C. Rocha; M. van Rijn; K. Ahring; A. Belanger-Quintana; A. MacDonald; K. Dokoupil; M. Robert

doi:10.1016/j.ymgme.2012.11.012

Use of sapropterin in the management of phenylketonuria: Seven case reports

H. Gokmen Ozel, A. M. Lammardo, K. Motzfeldt, J. C. Rocha, M. van Rijn, K. Ahring, A. Belanger-Quintana, A. MacDonald^*, K. Dokoupil, M. Robert

^*Bijbehorende auteur voor dit werk

Faculteit Medische Wetenschappen/UMCG

Onderzoeksoutput › Academic › peer review

3 Citaten (Scopus)

Samenvatting

Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering sapropterin. We present a series of seven patient cases with PKU that illustrate important aspects of using sapropterin with diet in the management of the disorder. (C) 2012 Elsevier Inc. All rights reserved.

Originele taal-2	English
Pagina's (van-tot)	109-111
Aantal pagina's	3
Tijdschrift	Molecular Genetics and Metabolism
Volume	108
Nummer van het tijdschrift	2
DOI's	https://doi.org/10.1016/j.ymgme.2012.11.012
Status	Published - feb-2013

Toegang tot document

10.1016/j.ymgme.2012.11.012

Citeer dit

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title = "Use of sapropterin in the management of phenylketonuria: Seven case reports",

abstract = "Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering sapropterin. We present a series of seven patient cases with PKU that illustrate important aspects of using sapropterin with diet in the management of the disorder. (C) 2012 Elsevier Inc. All rights reserved.",

keywords = "Tetrahydrobiopterin, Sapropterin, Phenylketonuria, Phenylalanine, Diet",

author = "Ozel, {H. Gokmen} and Lammardo, {A. M.} and K. Motzfeldt and Rocha, {J. C.} and {van Rijn}, M. and K. Ahring and A. Belanger-Quintana and A. MacDonald and K. Dokoupil and M. Robert",

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doi = "10.1016/j.ymgme.2012.11.012",

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T2 - Seven case reports

AU - Ozel, H. Gokmen

AU - Lammardo, A. M.

AU - Motzfeldt, K.

AU - Rocha, J. C.

AU - van Rijn, M.

AU - Ahring, K.

AU - Belanger-Quintana, A.

AU - MacDonald, A.

AU - Dokoupil, K.

AU - Robert, M.

PY - 2013/2

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N2 - Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering sapropterin. We present a series of seven patient cases with PKU that illustrate important aspects of using sapropterin with diet in the management of the disorder. (C) 2012 Elsevier Inc. All rights reserved.

AB - Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering sapropterin. We present a series of seven patient cases with PKU that illustrate important aspects of using sapropterin with diet in the management of the disorder. (C) 2012 Elsevier Inc. All rights reserved.

KW - Tetrahydrobiopterin

KW - Sapropterin

KW - Phenylketonuria

KW - Phenylalanine

KW - Diet

U2 - 10.1016/j.ymgme.2012.11.012

DO - 10.1016/j.ymgme.2012.11.012

M3 - Article

VL - 108

SP - 109

EP - 111

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 2

ER -