نتایج جستجو برای: deficiency syndrome

تعداد نتایج: 738061  

Journal: :middle east journal of digestive diseases 0
mohammad javad zahedi sodaif darvish moghadam seyed mahdi seyed mirzaei masood dehghani sara shafiei pour atefe rasti

blue rubber bleb nevus syndrome is a rare disorder that is characterized by multiple recurrent vascular malformations of skin and gastrointestinal tract . the affected patients may present with diverse manifestations including iron deficiency anemia. we report this syndrome in a 22-year-old man that was referred to our hospital for iron deficiency anemia with unknown cause and vascular malforma...

Journal: :Science Translational Medicine 2021

Clinical and basic studies shed light on the mechanism, diagnosis, treatment of cardiac ryanodine receptor Ca 2+ release deficiency syndrome.

2014
Catarina M. Quinzii Valentina Emmanuele Michio Hirano

Coenzyme Q 10 (CoQ 10 ) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ 10 d...

2013
Yubo Li Yuxiu Sun Xueling Ma Xiaoxing Xue Xinlou Chai Weiming Wang Huihui Zhao Kun Chen Shuzhen Guo Jianxin Chen Wei Wang Huan Dong Lu

The objective of the present study was to make comparison between rat models of depression achieved by chronic unpredictable mild stress (CUMS) and reserpine injection from the angle of traditional Chinese medicine syndrome, depict the regularity of syndrome variation of the two models, and preliminarily explain its molecular mechanism. Rat depression models were achieved respectively by CUMS a...

Journal: :Journal of Medicine, University of Santo Tomas 2023

Vitamin B12 deficiency has long been known to present with various neurological manifestations, but only rarely presents as movement disorders, especially in adults. We the case of a 30-year-old vegan male presenting tremors on both legs when standing which was relieved by vitamin supplementation. To best our knowledge, this is first documented slow orthostatic tremor or pseudo-orthostatic caus...

Journal: :The New England journal of medicine 2005
Michèl A A P Willemsen Ron A Wevers Marcel M Verbeek

to the editor: Ramaekers et al. (May 12 issue)1 report 28 patients with the cerebral folate deficiency syndrome characterized by decreased levels of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid caused by autoantibodies’ blocking of folate transport into the brain. The patients benefited from folinic acid supplementation. The clinical features of this syndrome fit with other neuro...

Journal: :Archives of Disease in Childhood 1989

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