دورية أكاديمية
Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain
| العنوان: | Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain |
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| المؤلفون: | DiMauro S., Garone C. |
| المساهمون: | DiMauro S., Garone C. |
| سنة النشر: | 2011 |
| المجموعة: | IRIS Università degli Studi di Bologna (CRIS - Current Research Information System) |
| مصطلحات موضوعية: | Fetal presentation, Glycogen, Glycogen storage disease, Mitochondria, Mitochondrial encephalomyopathie, Mitochondrial respiratory chain, Neonatal presentation, Electron Transport, Fetal Disease, Human, Infant, Newborn, Metabolic Disease |
| الوصف: | Two major groups of inborn errors of energy metabolism are reviewed -glycogenoses and defects of the mitochondrial respiratory chain - to see how often these disorders present in fetal life or neonatally. After some general considerations on energy metabolism in the pre- and postnatal development of the human infant, different glycogen storage diseases and mitochondrial encephalomyopathies are surveyed. General conclusions are that: (i) disorders of glycogen metabolism are more likely to cause 'fetal disease' than defects of the respiratory chain; (ii) mitochondrial encephalomyopathies, especially those due to defects of the nuclear genome, are frequent causes of neonatal or infantile diseases, typically Leigh syndrome, but usually do not cause fetal distress; (iii) notable exceptions include mutations in the complex III assembly gene BCS1L resulting in the GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death), and defects of mitochondrial protein synthesis, which are the 'new frontier' in mitochondrial translational research. © 2011. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/21620786; info:eu-repo/semantics/altIdentifier/wos/WOS:000293263300003; volume:16; issue:4; firstpage:181; lastpage:189; numberofpages:9; journal:SEMINARS IN FETAL & NEONATAL MEDICINE; http://hdl.handle.net/11585/716747Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80955181051 |
| DOI: | 10.1016/j.siny.2011.04.010 |
| الإتاحة: | https://doi.org/10.1016/j.siny.2011.04.010Test http://hdl.handle.net/11585/716747Test |
| رقم الانضمام: | edsbas.474EAC5A |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.siny.2011.04.010 |
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