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 Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2005 3
2006 4
2008 1
2009 5
2010 4
2011 6
2012 1
2013 4
2014 6
2015 6
2016 6
2017 13
2018 13
2019 16
2020 15
2021 18
2022 18
2023 15
2024 12
2025 15
2026 10

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

176 results

Results by year

Filters applied: . Clear all
Page 1
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Among authors: macdonald a. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. Muntau AC, et al. Among authors: macdonald a. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
van Spronsen FJ, van Wegberg AM, 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, Trefz FK, van Rijn M, Walter JH, MacDonald A. van Spronsen FJ, et al. Among authors: macdonald a. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Lancet Diabetes Endocrinol. 2017. PMID: 28082082 Review.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: macdonald a. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article.
Phenylketonuria, co-morbidity, and ageing: A review.
Vardy ERLC, MacDonald A, Ford S, Hofman DL. Vardy ERLC, et al. Among authors: macdonald a. J Inherit Metab Dis. 2020 Mar;43(2):167-178. doi: 10.1002/jimd.12186. Epub 2020 Jan 1. J Inherit Metab Dis. 2020. PMID: 31675115 Review.
The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial.
Pinto A, Daly A, Newby C, Robotham A, Heales S, Eaton S, Aitkenhead H, Gilmour K, Jackson R, Ashmore C, Evans S, Rocha JC, Ilgaz F, Hickson M, MacDonald A. Pinto A, et al. Among authors: macdonald a. Mol Genet Metab. 2024 Dec;143(4):108607. doi: 10.1016/j.ymgme.2024.108607. Epub 2024 Nov 4. Mol Genet Metab. 2024. PMID: 39579672 Free article. Clinical Trial.
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity.
Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A. Pinto A, et al. Among authors: macdonald a. Nutrients. 2024 Aug 31;16(17):2909. doi: 10.3390/nu16172909. Nutrients. 2024. PMID: 39275225 Free PMC article.
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.
Ilgaz F, Höller A, Marsaux C, Banta-Wright S, Coşkun T, Dingess KA, Jörg-Streller M, Newby C, Singh R, Stahl B, Szwec C, van Wegberg A, Woestenenk W, MacDonald A, Karall D. Ilgaz F, et al. Among authors: macdonald a. J Inherit Metab Dis. 2025 Mar;48(2):e70001. doi: 10.1002/jimd.70001. J Inherit Metab Dis. 2025. PMID: 39912448 Free PMC article.
176 results