Results 31 to 40 of about 120,158 (339)
Orphanet Journal of Rare Diseases, 2018 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).
Olga Y. Echeverri +8 more
doaj +1 more source
Frontiers in Oral HealthIntroductionThis study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.MethodsA cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a
Samuel Trezena +10 more
doaj +1 more source
Interactivist approach to representation in epigenetic agents [PDF]
, 2003 Interactivism is a vast and rather ambitious philosophical and theoretical system originally developed by Mark Bickhard, which covers plethora of aspects related to mind and person.
Kulakov, Andrea, Stojanov, Georgi
core
From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism [PDF]
J Inherit Metab DisJulio Cesar Rocha +2 more
openalex +2 more sources
Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk
Pediatric Blood &Cancer, EarlyView.ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark +7 more
wiley +1 more source
Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]
, 2006 Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth +2 more
core +1 more source
The role of histone modifications in transcription regulation upon DNA damage
FEBS Letters, EarlyView.This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley +1 more source
Structures, inner values, hierarchies and stages: essentials for developmental robot architectures [PDF]
, 2002 In this paper we try to locate the essential components needed for a developmental robot architecture. We take the vocabulary and the main concepts from Piaget’s genetic epistemology and Vygotsky’s activity theory.
Kulakov, Andrea, Stojanov, Georgi
core
The newfound relationship between extrachromosomal DNAs and excised signal circles
FEBS Letters, EarlyView.Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
Scientific Reports, 2023 The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron +6 more
doaj +1 more source