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

Results by year

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

Year Number of Results
1975 1
1985 1
1995 1
1996 1
1997 1
1999 2
2000 1
2001 1
2003 1
2007 1
2008 1
2010 6
2012 2
2013 1
2014 2
2015 1
2017 9
2018 28
2019 9
2020 3
2021 3
2022 5
2023 1
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

81 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Neutral hyperaminoaciduria"
Page 1
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA. Elhawary NA, et al. Hum Genomics. 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. Hum Genomics. 2022. PMID: 35854334 Free PMC article. Review.
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the phenylalanine hydroxyla …
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recess …
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.
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. ...
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme ph …
Photosensitivity and filter efficacy in albinism✰.
Hansen TB, Torner-Jordana J, Kessel L. Hansen TB, et al. J Optom. 2023 Jul-Sep;16(3):214-220. doi: 10.1016/j.optom.2022.07.002. Epub 2022 Aug 24. J Optom. 2023. PMID: 36028395 Free PMC article.
All outdoor spectacles contained a filter, whereas 26.5% of new indoor spectacles did not. Relatively neutral filter colors (gray, brown or a combination of gray and brown with other colors) and low transmission were preferred. DISCUSSION: Photosensitivity is common in alb …
All outdoor spectacles contained a filter, whereas 26.5% of new indoor spectacles did not. Relatively neutral filter colors (gray, br …
Emerging biosensors in Phenylketonuria.
Shyam R, Sekhar Panda H, Mishra J, Jyoti Panda J, Kour A. Shyam R, et al. Clin Chim Acta. 2024 Jun 1;559:119725. doi: 10.1016/j.cca.2024.119725. Epub 2024 May 9. Clin Chim Acta. 2024. PMID: 38734223 Review.
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder resulting from deficient phenylalanine hydroxylase (PAH) enzyme activity, leading to impaired phenylalanine (Phe) metabolism. This condition can lead to intellectual disability, epilepsy, and behavioural is …
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder resulting from deficient phenylalanine hydroxylase (PAH) enzyme activity, …
The phenylketonuria patient: A recent dietetic therapeutic approach.
Manta-Vogli PD, Dotsikas Y, Loukas YL, Schulpis KH. Manta-Vogli PD, et al. Nutr Neurosci. 2020 Aug;23(8):628-639. doi: 10.1080/1028415X.2018.1538196. Epub 2018 Oct 25. Nutr Neurosci. 2020. PMID: 30359206 Review.
Treatment consists of a lifelong restriction of Phe intake, combined with the supplementation of special medical foods, such as Amino Acid medical food (AA-mf), enriched in tyrosine (Tyr) and other amino acids and nutrients to avoid nutritional deficits. ...A …
Treatment consists of a lifelong restriction of Phe intake, combined with the supplementation of special medical foods, such as Amino …
Food triggers and inherited metabolic disorders: a challenge to the pediatrician.
Maines E, Di Palma A, Burlina A. Maines E, et al. Ital J Pediatr. 2018 Jan 25;44(1):18. doi: 10.1186/s13052-018-0456-2. Ital J Pediatr. 2018. PMID: 29368648 Free PMC article. Review.
Nevertheless, in the extensive differential diagnosis, clinicians should also include inherited metabolic disorders (IMDs).This review reports clinical features and diagnostic aspects of the most common IMDs that may present with acute manifestations triggered by food intake. Maj …
Nevertheless, in the extensive differential diagnosis, clinicians should also include inherited metabolic disorders (IMDs).This review repor …
Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.
Echeverri OY, Guevara JM, Espejo-Mojica ÁJ, Ardila A, Pulido N, Reyes M, Rodriguez-Lopez A, Alméciga-Díaz CJ, Barrera LA. Echeverri OY, et al. Orphanet J Rare Dis. 2018 Aug 16;13(1):141. doi: 10.1186/s13023-018-0879-2. Orphanet J Rare Dis. 2018. PMID: 30115094 Free PMC article. Review.
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals, as well as the res …
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by …
State of the art in muscle lipid diseases.
Liang WC, Nishino I. Liang WC, et al. Acta Myol. 2010 Oct;29(2):351-6. Acta Myol. 2010. PMID: 21314018 Free PMC article. Review.
Fatty acid oxidation in mitochondrial matrix is a major source of energy in muscle, especially when physiological energy demand is increased and exceeds what can be provided through glycolysis. ...So far, causative genes have been identified in four different LSMs, compris …
Fatty acid oxidation in mitochondrial matrix is a major source of energy in muscle, especially when physiological energy demand is in …
Future treatment strategies in phenylketonuria.
van Spronsen FJ, Enns GM. van Spronsen FJ, et al. Mol Genet Metab. 2010;99 Suppl 1:S90-5. doi: 10.1016/j.ymgme.2009.10.008. Mol Genet Metab. 2010. PMID: 20123478 Review.
Recent times have seen the introduction of a wide array of novel treatments currently in clinical use, including more palatable medical foods, glycomacropeptide, large neutral amino acids, and tetrahydrobiopterin. Human trials are underway using an enzymatic therape …
Recent times have seen the introduction of a wide array of novel treatments currently in clinical use, including more palatable medical food …
Carbohydrate status in patients with phenylketonuria.
Couce ML, Sánchez-Pintos P, Vitoria I, De Castro MJ, Aldámiz-Echevarría L, Correcher P, Fernández-Marmiesse A, Roca I, Hermida A, Martínez-Olmos M, Leis R. Couce ML, et al. Orphanet J Rare Dis. 2018 Jun 27;13(1):103. doi: 10.1186/s13023-018-0847-x. Orphanet J Rare Dis. 2018. PMID: 29945661 Free PMC article.
BACKGROUND: In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecules are metabolized in t …
BACKGROUND: In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free ami …
81 results