Results 91 to 100 of about 1,764 (178)
Journal of Clinical Laboratory Analysis, Volume 38, Issue 7, April 2024.We carried out a systematic review of the use of dried biofluids in kidney disease. The majority of studies focused on drug quantification following transplant. However, dried biofluids were comparable with venous samples opening up the possibility to expand to biomarker discovery.
Megan K. Lamond +3 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.Molecular analysis of the HPD variants. (a) HPD gene sequencing of the patient and her parents. The patient carried compound heterozygous PANK2 gene mutations of c.656C>T and c.731C>T, the father carried c.656C>T, and the mother carried c.731C>T. Arrows indicate the location of the variants.
Dong Han +8 more
wiley +1 more source
Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico
Annals of Hepatology, 2014 Introduction. Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic disease characterized by progressive liver failure with pronounced coagulopathy.
Cynthia Fernández-Lainez +5 more
doaj +1 more source
The role of appoptosin in regulating oxidative stress and mitochondrial morphology [PDF]
, 2015 氧化压力是指细胞或体内氧自由基的含量超出抗氧化物及抗氧化酶类清除能力时对细胞或机体造成的氧化胁迫。氧化压力参与了包括炎症、衰老、心血管疾病、癌症、糖尿病、艾滋病、神经退行性疾病等多种疾病的发病过程。氧化压力通过多个下游信号通路对细胞造成胁迫，如JNK、Foxo等，但其中的具体参与蛋白仍有待于深入阐明。Appoptosin也被称为SLC25A38，是一种定位于线粒体内膜的转运蛋白，负责转入甘氨酸并转出D-氨基乙酰丙酸，进而调节血红素（heme）的合成 ...
张翠林
core
Recommendations for the management of tyrosinaemia type 1
Orphanet Journal of Rare Diseases, 2013 The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy.
de Laet Corinne +8 more
doaj +1 more source
Experimental Biology and Medicine, 1991 Phosphaturia is a prominent component of the renal Fanconi syndrome associated with the autosomal recessive disease, hereditary tyrosinemia. Succinylacetone (SA), the metabolic by-product of the enzyme deficiency, can be shown to produce multiple adverse effects on rat renal epithelial cell function in vitro.
K S, Roth, B E, Carter, E S, Higgins
openaire +2 more sources
Metabolomics Based Profiling of Dexamethasone Side Effects in Rats
Frontiers in Pharmacology, 2018 Dexamethasone (Dex) is a synthetic glucocorticoid that has anti-inflammatory and immunosuppressant effects and is used in several conditions such as asthma and severe allergy.
Abeer K. Malkawi +12 more
doaj +1 more source
Effects of succinylacetone on the uptake of sugars and amino acids by brush border vesicles
Kidney International, 1988 Infants with hereditary tyrosinemia excrete succinylacetone (SA) in their urine, and suffer from a reversible renal Fanconi syndrome with glycosuria and hyperaminoaciduria. Thus, we have examined the effects of 4 mM SA on rat renal brush border membrane vesicle uptake of sugars and amino acids.
Spencer, Patricia D. +3 more
openaire +2 more sources
An Experimental Model of Porphyria [PDF]
, 1992 1. The porphyrias are a group of disorders of haem metabolism, due to an enzymatic defect in the haem biosynthetic pathway. Two current hypotheses regarding the underlying causes of the neuropathy of the acute type of porphyria were examined.
Odber, Josephine
core
Altered myelination as a proposed mechanism for neurocognitive dysfunction observed in mice with Tyrosinemia type 1 [PDF]
, 2018 The exact mechanism behind the recent reports of impaired neurocognitive function in individuals with the rare genetic disorder Hereditary Tyrosinemia Type I (HT1) has yet to be determined.
Moore, Marissa E.
core +1 more source