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| http://dx.doi.org/10.1016/j.ekir.2020.04.004 | DOI Listing |
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Endocr Metab Immune Disord Drug Targets
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Department of Biochemistry, KVG Medical College and Hospital, Sullia 574327, India.
Type 2 Diabetes Mellitus (T2DM) is an etiologically diverse metabolic dysfunction that, if untreated, leads to chronic hyperglycemia. Understanding the etiology of T2DM is critical, as it represents one of the most formidable medical challenges of the twenty-first century. Traditionally, insulin resistance has been recognized as the primary risk factor and a well-known consequence of type 2 diabetes.
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Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.
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A case report of -related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review.
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Department of Pediatric Neurology, Guiyang Maternal and Child Health Care Hospital, Guiyang, China.
Recently, mutations have been identified in six genes (, , , , and ) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual development syndrome(HPMRS). Reports involving the rare pathogenic gene, post-GPI attachment to proteins 2 () are quite limited. In this study, we reported two patients with variants related neurodevelopmental disorders from Asian population.
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J Med Case Rep
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Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Pyridoxamine 5'-phosphate oxidase deficiency is a rare inborn error of vitamin B metabolism that presents with drug-resistant epileptic seizures. However, the condition is responsive to supplementation with the active vitamin B metabolite pyridoxal 5'-phosphate and, in some cases, pyridoxine.
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Paediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India.
A male baby born out of consanguineous marriage (third degree) to a primigravida mother presented to our hospital on day 21 of life as his third hospitalisation with jerky movements, respiratory distress and refusal to feed. The baby had blood culture-positive sepsis, which was treated adequately. He was given antiseizure therapy for jerky movements, but there was no response to multiple antiseizure therapy, and then pyridoxine was added.
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