Results 101 to 110 of about 18,327 (286)
Genetic test evaluation: information needs of clinicians, policy makers, and the public [PDF]
Review article co-authored by the Public Health Genomics Branch. Standardized formats are needed to summarize what is known and not known about new genetic tests.
core
A rationale for the use of aspartame as a sugar substitute in the possible reduction of dental caries [PDF]
, 1989 Call number: LD2668 .R4 ASI 1989 M37Master of ScienceAnimal Sciences and ...
Marrero, Salvador.
core
New challenges in management of phenylketonuria in pregnancy: a case report. [PDF]
J Med Case Rep, 2023 Ugalde-Abiega B +4 more
europepmc +1 more source
172. Therapeutic Thresholds for Liver-Directed Gene Therapy of Phenylketonuria (PKU) [PDF]
, 2009 openalex +1 more source
The role of anxiety in the relationship between Phenylketonuria and working memory [PDF]
, 2022 Kelly M. Boland
openalex +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha +2 more
wiley +1 more source
JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) and an increased risk of developmental disorders. Treatment involves a Phe‐restricted diet, amino acid supplements, and for a subset of patients, a tetrahydrobiopterin (BH4 ...
Per Lundkvist +3 more
wiley +1 more source
Analytical Science Advances, Volume 6, Issue 2, December 2025.ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu +3 more
wiley +1 more source
Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria [PDF]
, 2023 Mitzie Grant +6 more
openalex +1 more source
Development of an mRNA replacement therapy for phenylketonuria
Molecular Therapy: Nucleic Acids, 2022 C. G. Perez-Garcia +11 more
semanticscholar +1 more source