Zellweger Syndrome Amniocytes: Morphological Appearance and a Simple Sedimentation Method for Prenatal Diagnosis
نویسندگان
چکیده
منابع مشابه
Rapid Prenatal Diagnosis of Down Syndrome Using Quantitative Fluorescent PCR in Uncultured Amniocytes
Rapid prenatal diagnosis of common chromosome aneuploidies have been successful through quantitative fluorescent PCR (QF-PCR) assays and small tandem repeat (STR) markers. The purpose of our study was to investigate the clinical feasibility for rapid prenatal detection of Down syndrome using the quantitative fluorescent PCR in uncultured amniocytes. DNA was extracted from uncultured amniotic fl...
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Zellweger syndrome (ZS), or cerebrohepatorenal syndrome, was the first described peroxisomal biogenesis disorder. It represents the most severe phenotype, and some of its multiple congenital anomalies can manifest prenatally. Fetal hypokinesia, renal hyperechogenicity, and cerebral ventricular enlargement are the most common reported fetal features. Single and/or late detectable manifestations ...
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In the fault diagnosis of automaton, the vibration signal presents non-stationary and non-periodic, which make it difficult to extract the fault features. To solve this problem, an automaton fault diagnosis method based on morphological component analysis (MCA) and ensemble empirical mode decomposition (EEMD) was proposed. Based on the advantages of the morphological component analysis method i...
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In the fault diagnosis of automaton, the vibration signal presents non-stationary and non-periodic, which make it difficult to extract the fault features. To solve this problem, an automaton fault diagnosis method based on morphological component analysis (MCA) and ensemble empirical mode decomposition (EEMD) was proposed. Based on the advantages of the morphological component analysis method i...
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The absence of peroxisomes in patients with the cerebrohepatorenal syndrome of Zellweger leads to several biochemical abnormalities, including deficient synthesis of plasmalogens as well as accumulation of very long-chain fatty acids and intermediates in bile acid biosynthesis. Accumulation of very long-chain fatty acids in serum and fibroblasts has hitherto been used most extensively for diagn...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1988
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198807000-00016