Frontiers in Human Neuroscience, 2013 We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4 -14 years old) who presented with confirmed features of ASD.
Martha eSpilioti +14 more
doaj +1 more source
Adenine and Folic Acid in the Lesch-Nyhan Syndrome [PDF]
, 1973 Paul J. Benke +5 more
openalex +1 more source
Rapid prenatal diagnosis of the Lesch-Nyhan syndrome. [PDF]
, 1977 Dicky Halley, M J Heukels-Dully
openalex +1 more source
Italian experience with Lesch-Nyhan patients and animal models of the disease
The EuroBiotech Journal, 2017 Lesch-Nyhan Disease (LND) is a rare X-linked genetic disease with hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, due to mutation in the encoding gene, located on the X-chromosome.
Micheli Vanna, Bertelli Matteo
doaj +1 more source
X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo [PDF]
, 1982 Electrophoretic variant forms of the X-linked enzyme phosphoglycerate kinase (PGK-1, E.C.2, 7, 2, 3) have been used to examine X-chromosome mosaicism in tissues from 121/2-day post coitum heterozygous female mouse embryos.
Fosten, M., McMahon, A., Monk, M.
core
BOIS 412/812: Human Genetics—A Peer Review of Teaching Project Benchmark Portfolio [PDF]
, 2016 This portfolio focuses on Human Genetics, an upper-division course taken primarily by biology majors to fulfill elective credit in their degree. This course studies the genetic basis for human variation, with the goal of placing this variation in the ...
Meiklejohn, Colin D
core +3 more sources
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland) [PDF]
, 1988 Beverly L. Davidson +2 more
openalex +1 more source
The human β-amyloid precursor protein: biomolecular and epigenetic aspects
Biomolecular Concepts, 2015 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
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. [PDF]
, 1989 Shin Fujimori +3 more
openalex +1 more source