Results 71 to 80 of about 32,659 (306)
The ethics of genetic research on intelligence [PDF]
, 2000 Should research on the possible genetic components of human intelligence be carried out? I first try to provide some general guidelines as to whether any particular piece of research should be undertaken and then consider the specific example of the ...
Reiss, Michael
core +2 more sources
ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli +17 more
wiley +1 more source
State-of-the-Art 2019 on Gene therapy for Phenylketonuria.
Human Gene Therapy, 2019 Phenylketonuria (PKU) is considered to be a paradigm for a monogenic metabolic disorder but was never thought to be a primary application for human gene therapy due to established alternative treatment.
H. M. Grisch-Chan +3 more
semanticscholar +1 more source
Neonatal Phenylketonuria Screening Indices in Kerman district during 2013-2017
پژوهشهای سلامتمحور, 2019 Neonatal Phenylketonuria Screening Indices in Kerman District during 2013-2017 Bavafa Babak1, Ahmadipour Habibeh2*, Bigham Eshrat3 1. Pediatrician, Focal Point of Phenylketonuria, Family Physician Clinic, Afzalipour School of Medicine, Kerman ...
Babak Bavafa +2 more
doaj
A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood
The Turkish Journal of Pediatrics, 2016 Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients.
Betül Mazlum +5 more
doaj +1 more source
Phenylketonuria: Protein content and amino acids profile of dishes for phenylketonuric patients. The relevance of phenylalanine [PDF]
, 2014 Phenylketonuria is an inborn error of metabolism, involving, in most cases, a deficient activity of phenylalanine hydroxylase. Neonatal diagnosis and a prompt special diet (low phenylalanine and natural-protein restricted diets) are essential to the ...
Almeida, Manuela F. +5 more
core +1 more source
Epileptic Disorders, EarlyView.Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +1 more source
Pteridines, 1991 The effect of an oral load of phenylalanine (100 mg/kg body weight) on the levels of neopterin and biopterin in urine has been determined in 8 heterozygotes for classical phenylketonuria and 25 supposed normal controls. In basal conditions, neopterin and
Ruiz-Vázquez P. +7 more
doaj +1 more source
NEWBORN SCREENING FOR RARE DISEASES IN THE NORTH-EAST PART OF ROMANIA: RESULTS OF THE NEWBORN SCREENING PROGRAM 2009-2012 [PDF]
Romanian Journal of Pediatrics, 2013 Objective. To evaluate the Newborn Screening Program for rare diseases – congenital hypothyroidism (CH) and phenylketonuria (PKU) – in the north-east part of Romania from 2009 to 2012. Methods.
Dana-Teodora Anton-Paduraru +1 more
doaj +1 more source
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