Organic acidemias are disorders of intermediary metabolism that lead to accumulation of organic acids in biologic fluids, disturb acid-base balance, and derange intracellular …
Organic acid disorders are inherited metabolic disorders in which organic acids accumulate in tissues and biological fluids of affected individuals. Classical organic acidurias include …
GF Hoffmann, KM Gibson, FK Tretz, WL Nyhan… - European journal of …, 1994 - Springer
Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the absence of metabolic derangement …
DC Lehotay, JTR Clarke, P Renaldo - Critical reviews in clinical …, 1995 - Taylor & Francis
Organic acid analysis is a powerful technique in the diagnosis of inborn errors of metabolism. Since the development of the technique over twenty-five years ago, it has …
MJ Mahoney - Clinics in Perinatology, 1976 - perinatology.theclinics.com
An article about organic acidemias is a new addition to an outline of inborn errors of metabolism. Its inclusion follows the application of new laboratory methods to the …
M Rashed, PT Ozand, A Al Aqeel, GG Gascon - Brain and development, 1994 - Elsevier
The Inborn Errors of Metabolism and Neurology Services of the King Faisal Specialist Hospital and Research Centre (KFSH&RC) and Armed Forces Hospital have received more …
Disease characteristics. The term" organic acidemia" or" organic aciduria"(OA) applies to a group of disorders characterized by the excretion of non-amino organic acids in urine. Most …
AT Tuncel, N Boy, MA Morath, F Hörster… - Journal of inherited …, 2018 - Springer
Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases delineated with the implementation of gas …
M Wajner, K Raymond, A Barschak, AP Luft… - Archives of medical …, 2002 - Elsevier
BACKGROUND: Organic acidurias or organic acidemias are inherited metabolic disorders in which organic acids (carboxylic acids) accumulate in tissues and physiologic fluids of …