Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

91 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
MacDonald A, Ahring K, Almeida MF, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla AS, Kamieńska E, Maillot F, Lammardo AM, Muntau AC, Puchwein-Schwepcke A, Robert M, Rocha JC, Santra S, Skeath R, Strączek K, Trefz FK, van Dam E, van Rijn M, van Spronsen F, Vijay S. MacDonald A, et al. Mol Genet Metab. 2015 Dec;116(4):242-51. doi: 10.1016/j.ymgme.2015.10.001. Epub 2015 Oct 9. Mol Genet Metab. 2015. PMID: 26498184
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
PKU dietary handbook to accompany PKU guidelines.
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. MacDonald A, et al. Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. Orphanet J Rare Dis. 2020. PMID: 32605583 Free PMC article. Review.
Use of sapropterin in the management of phenylketonuria: seven case reports.
Gokmen Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A, Dokoupil K. Gokmen Ozel H, et al. Mol Genet Metab. 2013 Feb;108(2):109-11. doi: 10.1016/j.ymgme.2012.11.012. Epub 2012 Nov 28. Mol Genet Metab. 2013. PMID: 23266371
Main issues in micronutrient supplementation in phenylketonuria.
Lammardo AM, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A, Dokoupil K, Ozel HG, Goyens P, Feillet F. Lammardo AM, et al. Mol Genet Metab. 2013;110 Suppl:S1-5. doi: 10.1016/j.ymgme.2013.08.008. Epub 2013 Aug 19. Mol Genet Metab. 2013. PMID: 24018009 Review.
Micronutrient status in phenylketonuria.
Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A, Dokoupil K, Gokmen Ozel H, Lammardo AM, Goyens P, Feillet F. Robert M, et al. Mol Genet Metab. 2013;110 Suppl:S6-17. doi: 10.1016/j.ymgme.2013.09.009. Epub 2013 Sep 19. Mol Genet Metab. 2013. PMID: 24113686 Review.
91 results