Propionic acidemia as a cause of adult-onset dilated cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Propionic acidemia presenting as diabetic ketoacidosis.
adverse event reports by an expert advisory committee. Advisory Committee on Causality Assessment. Bull World Health Organ. 2000;78:178-85. 3. Dragos V, Mervic L, Zgavec B. Lichen striatus in a child after immunization. A case report. Acta Dermatovenerol Alp Panonica Adriat. 2006;15:178-80. 4. Moore K, Lam JM. The toddler with 1 striped leg: a linear papular rash. CMAJ. 2009; 28;180:947-8. 5. V...
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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...
متن کاملAtypical presentations of propionic acidemia
One of the most common recessively inherited organic acidemias is the Propionic Acidosis (PA) which results from Propionyle-CoA Carboxylase (PCC) enzyme deficiency that is necessary for the catabolism of the branched chain Amino Acids and other metabolites. Classically this disease presented with high anion gap metabolic acidosis with its clinical consequences. We report 4 patients who presente...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2017
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2017.127