Delay in diagnosis of homocystinuria

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منابع مشابه

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.

OBJECTIVE To assess the causes for delay in the diagnosis of homocystinuria. DESIGN Clinical and laboratory data were collected from patients diagnosed as having homocystinuria due to cystathionine synthase deficiency, with special reference to the ages at which the patients had their first major signs of the disease, ectopia lentis was established, and homocystinuria was diagnosed. SETTING...

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Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients

OBJECTIVE Homocystinuria is a neurometabolic diseases characterized by symptoms include Neurodevelopmental delay, lens dislocation, long limbs and thrombosis. MATERIALS & METHODS The patients who were diagnosed as homocystinuria marfaniod habits, seizure in the Neurology Department of Mofid Children's Hospital in Tehran, Iran between 2004 and 2014 were included in our study. The disorder was ...

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homocystinuria: diagnosis and neuroimaging findings - of iranian pediatric patients

how to cite this article: karimzadeh p, jafari n, alai mr, jabbehdari s, ahmad abadi f, nejadbiglari h. homocystinuria: diagnosis and neuroimaging findings - of iranian pediatric patients. iran j child neurol. 2015 winter;9(1):94-98. abstract objective homocystinuria is a neurometabolic diseases characterized by symptoms include neurodevelopmental delay, lens dislocation, long limbs and thrombo...

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ژورنال

عنوان ژورنال: BMJ

سال: 1997

ISSN: 0959-8138,1468-5833

DOI: 10.1136/bmj.314.7077.369a