Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia
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چکیده
منابع مشابه
the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Optic neuropathy in methylmalonic acidemia and propionic acidemia.
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...
متن کاملSecondary Hemophagocytosis in Propionic Acidemia
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...
متن کاملPropionic acidemia in the newborn.
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: BMC Medical Genetics
سال: 2020
ISSN: 1471-2350
DOI: 10.1186/s12881-020-01008-y