Results 141 to 150 of about 350 (155)

Magnetic resonance spectroscopy as a diagnostic tool in cerebral creatine deficiency syndrome 3

Case Reports in Clinical Radiology
Cerebral creatine deficiency syndrome-3 is a rare autosomal recessive disorder characterized by disturbance of expressive and cognitive speech, developmental delay, intellectual deficiency and myopathy. In some rare cases, it is associated with behavioral issues and seizures which usually have an early onset.
Ankita Garg, Rajiv Gupta, Jayesh Ashok Kumar Modi, Debolina Kabiraj   +3 more
openaire   +1 more source

[Genetic analysis and treatment for an infant with cerebral creatine deficiency syndrome type 2].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
To carry out genetic and metabolite analysis for an infant with cerebral creatine deficiency syndrome type 2 (CCDS2).Clinical data of the child was collected. Whole-exome sequencing was carried out to identify potential variants by next generation sequencing. Candidate variants were confirmed by Sanger sequencing.
Weihua, Sun, Bingbing, Wu, Mengyuan, Wu, Bin, Yang, Ping, Zhang, Feifan, Xiao, Yiyun, Shi, Hongjiang, Wu, Wenhao, Zhou   +8 more
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SLC6A8-associated creatine transporter deficiency in a female individual with normal urine and plasma creatine metabolite levels, but a 50% reduction in the cerebral creatine peak on quantitative reanalysis of MR spectroscopy

2023
We report the clinical, genetic, and neuroimaging findings of a young female patient presenting with paroxysmal gait disturbances, developmental regression, and epilepsy, ultimately diagnosed with an X-linked creatine transporter deficiency (SLC6A8). This case highlights the diagnostic challenges and phenotype variability in female carriers of SLC6A8 ...
openaire   +1 more source

[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].

Medicina clinica, 2009
Brain creatine (Cr) deficiencies are a group of inborn errors of metabolism that are characterized by an absence or severe reduction of brain Cr. Clinically, these patients can display psychomotor/mental retardation and language disorders, commonly associated with epilepsy or movement disorders. Three metabolic defects are known: two affect synthesis -
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Alvarez E, Campistol J, Artuch R   +13 more
openaire   +2 more sources

Epilepsy spectrum in cerebral creatine transporter deficiency

Epilepsia, 2009
Fons, C., Sempere, A., Sanmarti, F.X., Arias, A., Poo, P., Pineda, M., Ribes, A., Merinero, B., Vilaseca, M.A., Salomons, G.S., Artuch, R., Campistol, J.   +11 more
openaire   +4 more sources

[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2020
This article reports the clinical and genetic features of two cases of cerebral creatine deficiency syndrome I (CCDSI) caused by SLC6A8 gene mutations. Both children were boys. Boy 1 (aged 2 years and 10 months) and Boy 2 (aged 8 years and 11 months) had the clinical manifestations of delayed mental and motor development, and convulsion.
Wei-Hua, Sun, Dan-Yan, Zhuang, Yao, Wang, Fei-Fan, Xiao, Meng-Yuan, Wu, Xin-Ran, Dong, Ping, Zhang, Hui-Jun, Wang, Wen-Hao, Zhou, Bing-Bing, Wu   +9 more
openaire   +1 more source

Cerebral creatine deficiency: Black cat in the coal cellar

Acta Neurologica Belgica, 2020
Ajith Cherian, K. P. Divya
openaire   +1 more source

Cerebral creatine deficiency syndromes

2017
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Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency

Nutritional Neuroscience, 2019
Sergej M Ostojic
exaly  

[Advances in studies on cerebral creatine deficiency syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2011
Wei-hua, Sun, Yi, Wang
openaire   +1 more source