排序方式： 共有3条查询结果，搜索用时 93 毫秒
1
1.
2.
This article considers the legal framework for archival and recordkeeping institutions, archivists and recordkeeping professionals
in one Australian state under the Victorian Charter of Human Rights and Responsibilities Act
2006 (Vic) and the relationship with protection of Indigenous culture. It examines the underlying themes of the Victorian Charter
and considers the Charter rights to culture, privacy and family as relevant specifically to Indigenous Victorians, and to
those institutions keeping records and archives relating to Indigenous Victorians. Finally, it explains the way the human
rights protected by the Charter are enforced, and the role of public institutions as duty bearers under the Charter. 相似文献
3.
Barbka Repic Lampret Simona Murko Marusa Debeljak Mojca Zerjav Tansek Petja Fister Tadej Battelino 《Biochemia medica : ?asopis Hrvatskoga dru?tva medicinskih biokemi?ara / HDMB》2015,25(2):279-284
Background
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics. Phenotypes vary from fatal metabolic decompensation to asymptomatic individuals.Subject and methods
A Romani boy presented at 3 days after birth with hypoglycaemia, hypotonia and respiratory pauses with brief generalized seizures. Afterwards the failure to thrive and developmental delay were present. Organic acids analysis with gas chromatography-mass spectrometry (GS/MS) in urine and acylcarnitines analysis with liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spot were measured. Deoxyribonucleic acid (DNA) was isolated from blood and polymerase chain reactions (PCRs) were performed for all exons. Sequence analysis of all exons and flanking intron sequences of ACADS gene was performed.Results
Organic acids analysis revealed increased concentration of ethylmalonic acid. Acylcarnitines analysis showed increase of butyrylcarnitine, C4-carnitine. C4-carnitine was 3.5 times above the reference range (<0.68 µmol/L). Confirmation analysis for organic acids and acylcarnitine profile was performed on the second independent sample and showed the same pattern of increased metabolites. Sequence analysis revealed 3-bp deletion at position 310-312 in homozygous state (c.310_312delGAG). Mutation was previously described as pathogenic in heterozygous state, while it is in homozygous state in our patient.Conclusions
In our case clinical features of a patient, biochemical parameters and genetic data were consistent and showed definitely SCAD deficiency.Key words: SCAD deficiency, short chain acyl-CoA dehydrogenase deficiency, screening, acylcarnitine, polymorphism, genetic 相似文献
1