Prenatal Diagnosis of Zellweger Syndrome: Case Report
Zellweger syndrome (ZS) (Cerebro-Hepato-Renal syndrome) is a rare autosomal recessive disorder characterized by an absence or marked decrease in peroxisomes, resulting in profound muscular hypotonia and death in the neonatal period.
Bilgin Kütükcü +3 more
doaj
Efeito da castração pós-natal na sepse experimental em ratos. [PDF]
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Cirúrgica, Curso de Medicina, Florianópolis ...
Serafim, João Daniel May
core
Two-hour algorithm for triage toward rule-out and rule-in of acute myocardial infarction using high-sensitivity cardiac troponin T [PDF]
BACKGROUND: The early triage of patients toward ruleout and rule-in of acute myocardial infarction (AMI) is challenging. Therefore, we aimed to develop a 2-h algorithm that uses high-sensitivity cardiac troponin I (hs-cTnI).
Cullen, Louise +13 more
core +2 more sources
Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. [PDF]
Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others ...
Adams +154 more
core +2 more sources
13(S)-Hydroxy-[12,13-3H]octadecadienoic acid (13-HODE), a linoleic acid oxidation product that has vasoactive properties, was rapidly taken up by bovine aortic endothelial cells.
Xiang Fang +2 more
doaj +1 more source
A Case Study Through an Audiological Perspective on a Pediatric Patient Diagnosed with Zellweger Syndrome. [PDF]
Mohan V.
europepmc +1 more source
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism [PDF]
Background Acyl-CoA binding domain containing protein 5 (ACBD5) is a peroxisomal membrane protein with a cytosolic acyl-CoA binding domain. Because of its acyl-CoA binding domain, ACBD5 has been assumed to function as an intracellular carrier of acyl ...
Falkenberg, K, KF +10 more
core +1 more source
Pmp27 Promotes Peroxisomal Proliferation [PDF]
Peroxisomes perform many essential functions in eukaryotic cells. The weight of evidence indicates that these organelles divide by budding from preexisting peroxisomes. This process is not understood at the molecular level.
Dyer, John M., +5 more
core +5 more sources
Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients. [PDF]
Zhu Z +7 more
europepmc +1 more source
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage [PDF]
ATP-binding cassette (ABC) transporters facilitate unidirectional translocation of chemically diverse substances, ranging from peptides to lipids, across cell or organelle membranes.
Broccoli, Vania +12 more
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