Results 101 to 110 of about 2,273 (178)

Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism

open access: yesBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2017
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

FOLFOX treatment response prediction in metastatic or recurrent colorectal cancer patients via machine learning algorithms

open access: yesCancer Medicine, 2020
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 Cpt1a Inhibits Neonatal Hyperoxia‐Induced Pulmonary Vascular Remodeling by Repressing Endothelial‐Mesenchymal Transition

open access: yesAdvanced Science, Volume 12, Issue 11, March 20, 2025.
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]

open access: yes, 2009
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

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
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

Genetic variability of Hypostomus (Teleostei, Loricariidae) from the Ribeirão Maringá, a stream of the upper Rio Paraná basin, Brazil

open access: yesGenetics and Molecular Biology, 2005
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]

open access: yes, 2010
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)

open access: yesНервно-мышечные болезни
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]

open access: yes, 2010
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

Second Order Gauge Invariant Perturbation Theory -- Perturbative curvatures in the two-parameter case --

open access: yes, 2006
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

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