Thiamine Responsive Poli-oencephalomalacia in a Swan Goose- A Case Report
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چکیده
منابع مشابه
DOPA RESPONSIVE DYSTONIA: A CASE REPORT
Dopa responsive dystonia (DRD) is a dystonic syndrome of childhood, usually affecting gait and subsequently developing into parkinsonism with a dramatic therapeutic response to levodopa. At the best of our recollection this is the first case in Iranian medical literature of a 13 year old boy, affected by this interesting, rare and treatable disease which can be easily diagnosed if clinicia...
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BACKGROUND Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family stu...
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Thiamine or Vitamin B1 is an essential cofactor for many metabolic processes in numerous tissues. Thiamine-Responsive Megaloblastic Anemia Syndrome is a genetic disorder affecting thiamine transportation with consequent bone marrow, pancreatic, neurological, and cardiac functional and developmental anomalies. There are limited reports of the cardiac manifestations of this syndrome. Here, we pre...
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A three year old boy presented with sensory neural hearing loss since birth, Diabetes mellitus and anaemia. On investigation he was found to be suffering from thiamine responsive megaloblastic anaemia (TRMA) a very rare condition diagnosed in our settings.
متن کاملdopa responsive dystonia: a case report
dopa responsive dystonia (drd) is a dystonic syndrome of childhood, usually affecting gait and subsequently developing into parkinsonism with a dramatic therapeutic response to levodopa. at the best of our recollection this is the first case in iranian medical literature of a 13 year old boy, affected by this interesting, rare and treatable disease which can be easily diagnosed if clinicians ha...
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ژورنال
عنوان ژورنال: THE INDIAN JOURNAL OF VETERINARY SCIENCES AND BIOTECHNOLOGY
سال: 2017
ISSN: 2395-1176,2395-1176
DOI: 10.21887/ijvsbt.v13i01.8739