Results 71 to 80 of about 25,962 (237)
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
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
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
A Framework to Establish Diet and Nutrition Competencies for Oral Health Care Education
Journal of Dental Education, EarlyView.ABSTRACT Objective: To prevent and manage oral disease, oral health care practitioners (OHCPs) must provide dietary counseling based on nutrition science. OHCPs are often ill‐equipped to provide such counseling due to fragmented and inadequate dietary education, which is typically attributed to limited curricular time or appropriately qualified faculty.
Teresa A. Marshall +2 more
wiley +1 more source
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Endometrial cancer (EC) is closely related to metabolic disorders. We aimed to investigate whether preoperative dyslipidemia independently affects the prognosis of patients with EC. One hundred and ninety‐four women diagnosed with EC by pathology and who had undergone standardized surgical treatment at the Affiliated Hospital of Jining Medical
Song Li +5 more
wiley +1 more source
Microbiota Medicine Research, EarlyView.ABSTRACT The growing recognition of the microbiome's role in human health has propelled the emergence of microbiota medicine—a new discipline integrating microbiology, multi‐omics, and clinical science. Advances in sequencing, data integration, and interventions such as fecal microbiota transplantation (FMT) have transitioned the field from ...
Min Dai +6 more
wiley +1 more source
Challenges in the management of Phenylketonuria in Malta [PDF]
, 2016 Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard Montalto, Simon, Attard, Stephen
core
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients
The Turkish Journal of Pediatrics, 1993 The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript.
M Ozgüç +5 more
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