PKU dietary handbook to accompany PKU guidelines

A MacDonald; A M J van Wegberg; K Ahring; S Beblo; A Bélanger-Quintana; A Burlina; J Campistol; T Coşkun; F Feillet; M Giżewska; S C Huijbregts; V Leuzzi; F Maillot; A C Muntau; J C Rocha; C Romani; F Trefz; F J van Spronsen

doi:10.1186/s13023-020-01391-y

PKU dietary handbook to accompany PKU guidelines

A MacDonald, A M J van Wegberg, K Ahring, S Beblo, A Bélanger-Quintana, A Burlina, J Campistol, T Coşkun, F Feillet, M Giżewska, S C Huijbregts, V Leuzzi, F Maillot, A C Muntau, J C Rocha, C Romani, F Trefz, F J van Spronsen

Afdeling for Børn og Unge JMC

170 Citationer (Scopus)

Abstract

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.

MAIN BODY: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment.

CONCLUSION: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.

Originalsprog	Engelsk
Artikelnummer	171
Tidsskrift	Orphanet Journal of Rare Diseases
Vol/bind	15
Udgave nummer	1
ISSN	1750-1172
DOI	https://doi.org/10.1186/s13023-020-01391-y
Status	Udgivet - 30 jun. 2020

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10.1186/s13023-020-01391-y

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MacDonald, A., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F., & van Spronsen, F. J. (2020). PKU dietary handbook to accompany PKU guidelines. Orphanet Journal of Rare Diseases, 15(1), Artikel 171. https://doi.org/10.1186/s13023-020-01391-y

MacDonald, A, van Wegberg, AMJ, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, Coşkun, T, Feillet, F, Giżewska, M, Huijbregts, SC, Leuzzi, V, Maillot, F, Muntau, AC, Rocha, JC, Romani, C, Trefz, F & van Spronsen, FJ 2020, 'PKU dietary handbook to accompany PKU guidelines', Orphanet Journal of Rare Diseases, bind 15, nr. 1, 171. https://doi.org/10.1186/s13023-020-01391-y

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abstract = "BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.MAIN BODY: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment.CONCLUSION: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.",

keywords = "Diet, Humans, Phenylalanine, Phenylalanine Hydroxylase, Phenylketonurias, Tyrosine",

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doi = "10.1186/s13023-020-01391-y",

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T1 - PKU dietary handbook to accompany PKU guidelines

AU - MacDonald, A

AU - van Wegberg, A M J

AU - Ahring, K

AU - Beblo, S

AU - Bélanger-Quintana, A

AU - Burlina, A

AU - Campistol, J

AU - Coşkun, T

AU - Feillet, F

AU - Giżewska, M

AU - Huijbregts, S C

AU - Leuzzi, V

AU - Maillot, F

AU - Muntau, A C

AU - Rocha, J C

AU - Romani, C

AU - Trefz, F

AU - van Spronsen, F J

PY - 2020/6/30

Y1 - 2020/6/30

N2 - BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.MAIN BODY: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment.CONCLUSION: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.

AB - BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.MAIN BODY: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment.CONCLUSION: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.

KW - Diet

KW - Humans

KW - Phenylalanine

KW - Phenylalanine Hydroxylase

KW - Phenylketonurias

KW - Tyrosine

U2 - 10.1186/s13023-020-01391-y

DO - 10.1186/s13023-020-01391-y

M3 - Review

C2 - 32605583

SN - 1750-1172

VL - 15

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

IS - 1

M1 - 171

ER -

PKU dietary handbook to accompany PKU guidelines

Abstract

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