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Patients with organic acidemia are prone to different infections, which lead to acidosis episodes. Some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the immune system in non-acidotic phase of the disease. In this study, thirty-one patients with organic acidemia were enrolled. For evaluation of hum...

Neuroimaging has become an indispensable tool in understanding the regions of susceptibility , progression of disease, and therapeutic effectiveness for the management of neurologic diseases in humans. Metabolic diseases are recognized more frequently now as the biochemical basis is understood better. In addition, and as illustrated in this issue of the AJNR [1-3] , clinicians can benefit immen...

Fatemeh Sheikhmoonesi*1, MD; Arefeh Shafaat1, MD; Shirin Moarefian2, MD; Talieh Zaman, MD 1. Psychiatry and Behavioral Sciences Research Center, Mazandaran University of Medical Sciences, Sari, Iran 2. Iranian Inherited Metabolic Diseases Association 3. Department of Pediatric, Tehran University of Medical Sciences, Tehran, Iran Received: Jan 20, 2012; Accepted: Jun 27, 2012; First Online Avail...

TADA, K. and ARAKAWA, Ts. Hyperglycinemia and propionate carboxylation. Tohoku J. exp. Med., 1970, 102 (3), 313-314 The oxidation of propionate and methylmalonate was investigated in leukocytes from a patient with hyperglycin emia. It was found that the patient's leukocytes could oxidize both propionate and methylmalonate normally. These findings suggest that hyperglycinemia con sists of primar...

OBJECTIVE To assess the long term outcome of patients with methylmalonic acidaemia in a cross sectional study. PATIENTS All 35 patients with methylmalonic acidaemia seen at Great Ormond Street Hospital for Children in London, UK between 1970 and 1996 were studied. They were divided into cobalamin responsive (n = 6) and non-responsive (n = 29), and early and late onset groups. RESULTS There ...

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