Identification and classification of TCM syndrome types among patients with vascular mild cognitive impairment using latent tree analysis [PDF]
Objective: To treat patients with vascular mild cognitive impairment (VMCI) using TCM, it is necessary to classify the patients into TCM syndrome types and to apply different treatments to different types. We investigate how to properly carry out the classification using a novel data-driven method known as latent tree analysis.
arxiv
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. [PDF]
Shin Fujimori+3 more
openalex +1 more source
The human β-amyloid precursor protein: biomolecular and epigenetic aspects
Beta-amyloid precursor protein (APP) is a membrane-spanning protein with a large extracellular domain and a much smaller intracellular domain. APP plays a central role in Alzheimer’s disease (AD) pathogenesis: APP processing generates β-amyloid (Aβ ...
Nguyen Khue Vu
doaj +1 more source
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland) [PDF]
Beverly L. Davidson+2 more
openalex +1 more source
HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome [PDF]
Sarah Engle
openalex +1 more source
Development, distribution and properties of purine phosphoribosyltransferases in mammals [PDF]
The object of the work described in this thesis has been to determine the tissue distribution, development, and properties of the purine phosphoribosyltransferases (PRTases), especially in man but also in some other animals.A major part of the work was ...
Adams, Andrew
core +1 more source
Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases [PDF]
Background: Inherited metabolic disorders (IEMs) can be represented in children and adolescents by psychiatric disorders. The early diagnosis of IEMs is crucial for clinical outcome and treatment.
Baglioni, Valentina+8 more
core +1 more source
Modeling neurodegenerative diseases with human pluripotent stem cells [PDF]
The discovery of human pluripotent stem cells has enabled the development of assays to model human disease in vitro. The research described in this thesis has focused on modeling Amyotrophic Lateral Sclerosis and Lesch Nyhan Syndrome using pluripotent ...
Boer, A.S. de
core +1 more source
SOMATIC CELL HYBRIDS BETWEEN MOUSE PERITONEAL MACROPHAGES AND SV40-TRANSFORMED HUMAN CELLS : I. Positive Control of the Transformed Phenotype by the Human Chromosome 7 Carrying the SV40 Genome [PDF]
Fusion of mouse peritoneal macrophages with SV40-transformed human cells, deficient in hypoxanthine guanine phosphoribosyltransferase, resulted in the formation of transformed somatic cell hybrids which contained, without exception, the human chromosome ...
Croce, Carlo M., Koprowski, Hilary
core +1 more source