Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls
نویسندگان
چکیده
منابع مشابه
CLONING AND EXPRESSION OF LEISHMANOLYSIN GENE FROM LEISHMANIA MAJOR IN PRIMATE CELL LINES
Leishmanolysin is a worldwide disease that is caused by different species of the genus Leishmania. Leishmanolysin, One of the genes expressed by Leishmania, appears to be an ideal candidate for genetic vaccination. In this study, a full length sequence, which encodes Leishmanolysin functionally critical regions (amino acids 100-579), was cloned from a Leishmania strain endemic to Iran. Analysis...
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BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...
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1Department of Pediatric Metabolism and Nutrition, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 2Pediatric Intensive Care Unit, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 3Department of Pediatric Hematology and Oncology, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 4Department of Pediatric Endocrinology, Diyarbakır Children’s Hospital, Diyarbakir, Turkey 5Department of Pedia...
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Propionic acidemia is a rare, autosomal, recessively inherited inborn error of propionate metabolism. It presents most often as a neonatal life threatening emergency with metabolic acidosis, hyperammonemia, hyperglycinemia and hyper gylcinuria. Since its first description in a male infant with episodic metabolic acidosis and hyperglycinemia(l), more than 100 cases have been reported. The presen...
متن کاملNatural history of propionic acidemia.
Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent stu...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2015
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2015.05.004