نتایج جستجو برای: creatine deficiency syndrome
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background: hyper ige syndrome (hies) is a rare primary immune deficiency, described as job`s syndrome characterized by increased serum levels of ige, eczema, recurrent cutaneous and pulmonary infections. in this paper, we presented a case of hyper ige syndrome.case presentation: a 16-year-old iranian boy presented with a one year history of skin lesions in knees and elbows was diagnosed of pso...
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and behavioral disturbances, language and speech impairment ( OMIM #300352). CCDS1 is still an untreatable pathology that can be very invalidating for patients an...
BACKGROUND Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. CASE CHARACTERISTICS Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation. OUTCOME Both patients were given creatine monohydrate, L-arginin...
Alpers-Huttenlocher syndrome, considered a mitochondrial disease, combines encephalopathy and liver failure. An 11-year-old boy with Alpers-Huttenlocher syndrome underwent conventional MR imaging, diffusion-weighted imaging, and proton MR spectroscopy. Diffusion-weighted imaging showed cytotoxic edema interpreted as acute-phase encephalopathy. MR spectroscopy revealed a lactate peak in the cort...
background : aids is acquired by infection with hiv (human immuno-deficiency virus). it leaves the host susceptible to malignant and unusual infections especially opportunistic ones. most of aids patients infected with opportunistic parasitic infections die because of chronic diarrhea and deaths due to cryptosporidium diarrhea in aids patients are considerable in the recent two decades. the aim...
background: association between the vitamin d deficiency and metabolic syndrome (mets) has previously been noted and reported to be controversial. the aim of this study was to determine the association of serum 25 (oh) d level and vitamin d dietary intake with mets among iranian population . methods: this analytical study was conducted on 122 patients with mets based on the atpiii criteria and ...
RATIONALE Creatine is thought to be involved in the spatial and temporal buffering of ATP in energetic organs such as heart and skeletal muscle. Creatine depletion affects force generation during maximal stimulation, while reduced levels of myocardial creatine are a hallmark of the failing heart, leading to the widely held view that creatine is important at high workloads and under conditions o...
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