Results 91 to 100 of about 31,184 (250)
Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study [PDF]
, 2016 BACKGROUND: It has been previously postulated that high phenylalanine (Phe) might disturb intracerebral dopamine production, which is the main regulator of prolactin secretion in the pituitary gland.
AB Burlina +19 more
core +2 more sources
A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics
Annals of Human Genetics, EarlyView.Abstract The paper explores Lionel Penrose's scientific work. Penrose investigated the causes of mental disorders from clinical and genetic points of view. His investigations on phenylketonuria and Down syndrome helped to demonstrate the heterogenous character of mental disorders, whose causes can range from genetic with high penetrance, to largely ...
Maria Kiladi
wiley +1 more source
The Iowa Perinatal Letter, April-May-June 2008, Vol. 29, no. 2 [PDF]
, 2008 This newsletter from The Department of Public Health about perinatal health care and ...
core
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study
Journal of Diabetes Investigation, EarlyView.Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba +5 more
wiley +1 more source
Characterization Of Patients Diagnosed With Phenylketonuria In The Neonatal Treatment Reference Service [PDF]
, 2019 Phenylketonuria is an inborn error of autosomal recessive genetic metabolism, with partial or total deficiency of the hepatic enzyme phenylalanine hydroxylase, which converts L-phenylalanine into tyrosine, causing accumulation of phenylalanine at brain ...
Cury Pontes, Elenir Rose Jardim +3 more
core +2 more sources
Inhibiting neutral amino acid transport for the treatment of phenylketonuria.
JCI Insight, 2018 The neuropathological effects of phenylketonuria (PKU) stem from the inability of the body to metabolize excess phenylalanine (Phe), resulting in accumulation of Phe in the blood and brain. Since the kidney normally reabsorbs circulating amino acids with
A. Belanger +8 more
semanticscholar +1 more source
Phenylketonuria: a review [PDF]
Postgraduate Medical Journal, 1970 SummaryThe development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling’s (1934) disease of phenylketonuria is not a single entity.In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by ...
openaire +3 more sources
Mental Health Science, Volume 3, Issue 2, June 2025.ABSTRACT Individuals worldwide share basic affective and cognitive abilities, and receive mental health diagnoses using similar scales. However, these measures have been predominantly developed and validated in Western contexts. Here, we compared British (N = 187; age 19–73 years) and Chinese participants (N = 194; age 19–60 years) on behavioral tasks ...
Boyin Feng +7 more
wiley +1 more source
Developmental Neuropsychology, 2016 This systematic review and meta-analysis (MA) investigates the impact of elevated blood phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU).
Deborah A Bilder +7 more
semanticscholar +1 more source
Pharmacology Research &Perspectives, Volume 13, Issue 3, June 2025.ABSTRACT The invention of a therapeutic begins by characterizing features that differentiate healthy versus diseased states; this often presents as changes in the concentration of an analyte. Examples include elevated blood glucose in diabetes, high cholesterol in heart disease, and protein aggregation in neurodegeneration.
Rebecca A. Kohnz +10 more
wiley +1 more source