نتایج جستجو برای: creatine deficiency syndrome
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Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual di...
BACKGROUND Antisynthetase syndrome is a rare and debilitating multiorgan disease characterized by inflammatory myopathy, interstitial lung disease, cutaneous involvement, and frequent chronic inflammation of the joints. Standard treatments include corticosteroids and immunosuppressants. In some cases, treatment resistance may develop. Administration of immunoglobulins intravenously is recommend...
autism is a neurodevelopmental disorder, characterized by poor social interaction and communication impairment and repetitive behavior. autism is considered as a genetic and multifactorial disorder, with diverse risk factors involved. herein, we report a 13-year-old male with common variable immunodeficiency (cvid), who was diagnosed with autism at the age of 3 years old. as there are some ...
the hallmarks of leukocyte adhesion deficiency (lad) are defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. these molecular and clinical manifestations result from an impaired step in the inflammatory process, namely, the emigration of leukocytes from the blood vessels to sites of infection, which requires adhesion of leukocytes to the endothelium. over las...
Cerebral Creatine Deficiency Syndromes (CCDS) are congenital metabolic disorders in the creatine metabolism pathway. In this study, we evaluated clinical, phenotypic, radiological and genetic features of patients with CCDS. We tried to identify early diagnosis clues patients. Especially, reviewed causes delay late diagnosis. line these findings, is confirmed by enzyme tests next generation sequ...
BACKGROUND AND OBJECTIVE Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). METHODS In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Ran...
OBJECTIVE To investigate whether secondary impairment of the transmethylation pathway is a mechanism underlying the neurologic involvement in homocystinuria due to remethylation defects. METHODS Twelve patients with neurologic disease due to remethylation defects were examined by brain magnetic resonance spectroscopic imaging ((1)H MRSI). Brain N-acetylaspartate, choline-containing compounds ...
Abstract Dietary creatine has been recently put forward as a possible intervention strategy to reduce post‐COVID‐19 fatigue syndrome yet no clinical study so far evaluated its efficacy and safety for this perplexing condition. In parallel‐group, randomized placebo‐controlled double‐blind trial, we analyzed the effects of 6‐month supplementation (4 g monohydrate per day) on various patient‐ clin...
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