Results 101 to 110 of about 2,273 (178)
Glutaric aciduria type I (GA-I) is a rare organic aciduria caused by the autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase (GCDH). GCDH deficiency leads to disruption of l-lysine degradation with characteristic accumulation of glutarylcarnitine and neurotoxic glutaric acid (GA), glutaryl-CoA, 3-hydroxyglutaric acid (3-OHGA). DHTKD1
Biagosch, C. +9 more
openaire +3 more sources
Early identification of metastatic or recurrent colorectal cancer (CRC) patients who will be sensitive to FOLFOX (5‐FU, leucovorin and oxaliplatin) therapy is very important.
Wei Lu +12 more
doaj +1 more source
Endothelial‐mesenchymal transition (EndoMT) causes pulmonary vascular remodeling in a murine model of bronchopulmonary dysplasia‐associated pulmonary hypertension. Endothelial reduction of carnitine palmitoyltransferase 1a (Cpt1a) is identified as a novel mechanism of lung EndoMT.
Xiaoyun Li +14 more
wiley +1 more source
An Iterative Method for Calculating Approximate GCD of Univariate Polynomials [PDF]
We present an iterative algorithm for calculating approximate greatest common divisor (GCD) of univariate polynomials with the real coefficients. For a given pair of polynomials and a degree, our algorithm finds a pair of polynomials which has a GCD of ...
Terui Akira, 照井 章
core +1 more source
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley +1 more source
Hypostomus strigaticeps and two morphotypes of Hypostomus were collected from Ribeirão Maringá, a small tributary of the Rio Pirapó, an effluent of the upper Rio Paraná.
Suzana de Paiva +2 more
doaj +1 more source
Core issues in the economics of biodiversity conservation [PDF]
Critically reviews the following core issues in the economics of biodiversity conservation: reliance on the stated preferences of individuals as a guide to biodiversity conservation, the relevance of the phylogenetic similarity principle (and other ...
Tisdell, Clem
core
Glutaric aciduria type 1 – the mask cerebral palsy (case report)
We report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease,
D. V. I +4 more
doaj +1 more source
Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations [PDF]
Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase. Although over 400 patients confirmed as GA I have been reported, reports from the Asian population had contributed to the minor ...
Chae, Jong Hee +9 more
core +2 more sources
Based on the gauge invariant variables proposed in our previous paper [K. Nakamura, Prog. Theor. Phys. vol.110 (2003), 723.], some formulae of the perturbative curvatures of each order are derived.
K. Nakamura, Stewart
core +1 more source

