The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Stephan C. J. Huijbregts; Annet M. Bosch; Quirine A. Simons; Rianne Jahja; Martijn C. G. J. Brouwers; Leo M. J. De Sonneville; Maaike C. De Vries; Floris C. Hofstede; Carla E. M. Hollak; Mirian C. H. Janssen; Janneke G. Langendonk; M. Estela Rubio-Gozalbo; Jaap J. Van der Meere; Ans T. Van der Ploeg; Francjan J. Van Spronsen

doi:10.1016/j.ymgme.2018.07.002

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Stephan C. J. Huijbregts^*, Annet M. Bosch, Quirine A. Simons, Rianne Jahja, Martijn C. G. J. Brouwers, Leo M. J. De Sonneville, Maaike C. De Vries, Floris C. Hofstede, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, M. Estela Rubio-Gozalbo, Jaap J. Van der Meere, Ans T. Van der Ploeg, Francjan J. Van Spronsen

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

8 Citations (Web of Science)

Original language	English
Pages (from-to)	96-103
Number of pages	8
Journal	Molecular Genetics and Metabolism
Volume	125
Issue number	1-2
DOIs	https://doi.org/10.1016/j.ymgme.2018.07.002
Publication status	Published - 1 Sep 2018

Keywords

Health-related quality of life
Phenylketonuria
Tetrahydrobiopterin
Metabolic control
Phenylalanine
WHITE-MATTER INTEGRITY
TERM-FOLLOW-UP
EXECUTIVE ABILITIES
MENTAL-HEALTH
ADULT PHENYLKETONURIA
AMINO-ACIDS
CHILDREN
PARENTS
INDIVIDUALS
SAPROPTERIN

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10.1016/j.ymgme.2018.07.002

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Huijbregts, S. C. J., Bosch, A. M., Simons, Q. A., Jahja, R., Brouwers, M. C. G. J., De Sonneville, L. M. J., De Vries, M. C., Hofstede, F. C., Hollak, C. E. M., Janssen, M. C. H., Langendonk, J. G., Rubio-Gozalbo, M. E., Van der Meere, J. J., Van der Ploeg, A. T., & Van Spronsen, F. J. (2018). The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study. Molecular Genetics and Metabolism, 125(1-2), 96-103. https://doi.org/10.1016/j.ymgme.2018.07.002

Huijbregts, Stephan C. J. ; Bosch, Annet M. ; Simons, Quirine A. ; Jahja, Rianne ; Brouwers, Martijn C. G. J. ; De Sonneville, Leo M. J. ; De Vries, Maaike C. ; Hofstede, Floris C. ; Hollak, Carla E. M. ; Janssen, Mirian C. H. ; Langendonk, Janneke G. ; Rubio-Gozalbo, M. Estela ; Van der Meere, Jaap J. ; Van der Ploeg, Ans T. ; Van Spronsen, Francjan J. / The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study. In: Molecular Genetics and Metabolism. 2018 ; Vol. 125, No. 1-2. pp. 96-103.

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title = "The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study",

keywords = "Health-related quality of life, Phenylketonuria, Tetrahydrobiopterin, Metabolic control, Phenylalanine, WHITE-MATTER INTEGRITY, TERM-FOLLOW-UP, EXECUTIVE ABILITIES, MENTAL-HEALTH, ADULT PHENYLKETONURIA, AMINO-ACIDS, CHILDREN, PARENTS, INDIVIDUALS, SAPROPTERIN",

author = "Huijbregts, {Stephan C. J.} and Bosch, {Annet M.} and Simons, {Quirine A.} and Rianne Jahja and Brouwers, {Martijn C. G. J.} and {De Sonneville}, {Leo M. J.} and {De Vries}, {Maaike C.} and Hofstede, {Floris C.} and Hollak, {Carla E. M.} and Janssen, {Mirian C. H.} and Langendonk, {Janneke G.} and Rubio-Gozalbo, {M. Estela} and {Van der Meere}, {Jaap J.} and {Van der Ploeg}, {Ans T.} and {Van Spronsen}, {Francjan J.}",

year = "2018",

month = sep,

day = "1",

doi = "10.1016/j.ymgme.2018.07.002",

language = "English",

volume = "125",

pages = "96--103",

journal = "Molecular Genetics and Metabolism",

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Huijbregts, SCJ, Bosch, AM, Simons, QA, Jahja, R, Brouwers, MCGJ, De Sonneville, LMJ, De Vries, MC, Hofstede, FC, Hollak, CEM, Janssen, MCH, Langendonk, JG, Rubio-Gozalbo, ME, Van der Meere, JJ, Van der Ploeg, AT & Van Spronsen, FJ 2018, 'The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study', Molecular Genetics and Metabolism, vol. 125, no. 1-2, pp. 96-103. https://doi.org/10.1016/j.ymgme.2018.07.002

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study. / Huijbregts, Stephan C. J.; Bosch, Annet M.; Simons, Quirine A.; Jahja, Rianne; Brouwers, Martijn C. G. J.; De Sonneville, Leo M. J.; De Vries, Maaike C.; Hofstede, Floris C.; Hollak, Carla E. M.; Janssen, Mirian C. H.; Langendonk, Janneke G.; Rubio-Gozalbo, M. Estela; Van der Meere, Jaap J.; Van der Ploeg, Ans T.; Van Spronsen, Francjan J.

In: Molecular Genetics and Metabolism, Vol. 125, No. 1-2, 01.09.2018, p. 96-103.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

AU - Huijbregts, Stephan C. J.

AU - Bosch, Annet M.

AU - Simons, Quirine A.

AU - Jahja, Rianne

AU - Brouwers, Martijn C. G. J.

AU - De Sonneville, Leo M. J.

AU - De Vries, Maaike C.

AU - Hofstede, Floris C.

AU - Hollak, Carla E. M.

AU - Janssen, Mirian C. H.

AU - Langendonk, Janneke G.

AU - Rubio-Gozalbo, M. Estela

AU - Van der Meere, Jaap J.

AU - Van der Ploeg, Ans T.

AU - Van Spronsen, Francjan J.

PY - 2018/9/1

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KW - Health-related quality of life

KW - Phenylketonuria

KW - Tetrahydrobiopterin

KW - Metabolic control

KW - Phenylalanine

KW - WHITE-MATTER INTEGRITY

KW - TERM-FOLLOW-UP

KW - EXECUTIVE ABILITIES

KW - MENTAL-HEALTH

KW - ADULT PHENYLKETONURIA

KW - AMINO-ACIDS

KW - CHILDREN

KW - PARENTS

KW - INDIVIDUALS

KW - SAPROPTERIN

U2 - 10.1016/j.ymgme.2018.07.002

DO - 10.1016/j.ymgme.2018.07.002

M3 - Article

C2 - 30007854

VL - 125

SP - 96

EP - 103

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 1-2

ER -