Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders
نویسندگان
چکیده
منابع مشابه
[The diagnosis of neurodegenerative disorders based on clinical and pathological findings using an MRI approach].
Diffusion tensor imaging and voxel based morphometry are efficient in the diagnosis of neurodegenerative disorders, however, these technologies are available at a limited number of facilities. Thus, conventional MRI remains important in the diagnosis of neurodegenerative disorders. Dorsolateral putaminal hyperintensity (DPH) and hot cross bun sign discriminate Parkinson's disease from multiple ...
متن کاملBiochemical and MRI findings of Kallmann's syndrome.
Kallmann's syndrome is a neuronal migration disorder characterised by anosmia/hyposmia and hypogonadotropic hypogonadism. We present a case of a 21-year-old man who was unable to sense smell since birth and who displayed non-development of secondary sexual characteristics for the past 10 years. Blood investigations showed low basal levels of serum follicle stimulating hormone (FSH), serum lutei...
متن کاملdiagnosis of human peroxisomal biogenesis disorders: molecular understanding of peroxisome
peroxisomes are single membrane bound organelles present in a wide variety of eukaryotes from yeast to human, have different functions, two of which are well conserved, i.e. hydrogen peroxide decomposition and fatty acid beta-oxidation. the process of peroxisome biogenesis can be divided into distinct steps including peroxisome membrane assembly, import of matrix proteins and peroxisome prolife...
متن کاملBiochemical Diagnosis of Peroxisomal Disorders by GC/MS: Egyptian Patients with X-linked Adrenoleukodystrophy
Background: Peroxisomes are organelles responsible mainly for metabolism of lipids and peroxides. Lack of peroxisomes or dysfunction in any of their normal functions is the cellular basis for human peroxisomal disorders (PDs). Aim of the Work: diagnosis of peroxisomal disorders among a high risk group of Egyptian patients using gas chromatography mass spectrometry. Subjects and Methods: Forty s...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2012
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2012.03.011