Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis
نویسندگان
چکیده
منابع مشابه
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia
Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300. Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease. The spectrum of clinical manifestations in POLG-related mitochondrial disease is variable, with disease onset ranging from adulthood-onset dominant or...
متن کاملLactic Acidosis in Status Asthmaticus
2001;119;1599-1602 Chest Constantine A. Manthous Cases and Review of the Literature : Three * Lactic Acidosis in Status Asthmaticus http://chestjournal.chestpubs.org/content/119/5/1599.full.html found online on the World Wide Web at: The online version of this article, along with updated information and services can be ) ISSN:0012-3692 http://chestjournal.chestpubs.org/site/misc/reprints.xhtml ...
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Hyperprolinemia type II (HP II) is a rare inherited metabolic disease due to the deficiency of pyroline-5-carboxylate dehydrogenase. It is generally believed to be a benign condition although some patients have neurological problems such as refractory convulsions. Here we report a six-year-old girl with HP II who admitted to our hospital with recurrent seizure refractory to multiple antiepilept...
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sociated with albuminuria in type 2 diabetic patients (4). To the best of our knowledge, however, it is not clear whether serum homocysteine is associated with TNF receptor in type 2 diabetic patients. The aim of the present study was therefore to investigate the relationships between serum homocysteine and TNF receptor in patients with type 2 diabetes. Fifty nonobese Japanese type 2 diabetic p...
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abstract type-ii fuzzy logic has shown its superiority over traditional fuzzy logic when dealing with uncertainty. type-ii fuzzy logic controllers are however newer and more promising approaches that have been recently applied to various fields due to their significant contribution especially when the noise (as an important instance of uncertainty) emerges. during the design of type- i fuz...
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ژورنال
عنوان ژورنال: BMC Neurology
سال: 2019
ISSN: 1471-2377
DOI: 10.1186/s12883-019-1583-0