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2002
2025

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Year Number of Results
2002 1
2007 2
2009 1
2010 1
2014 4
2015 2
2016 1
2019 3
2020 1
2021 1
2023 1
2025 0

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16 results

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Page 1
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
van de Kamp JM, Mancini GM, Salomons GS. van de Kamp JM, et al. J Inherit Metab Dis. 2014 Sep;37(5):715-33. doi: 10.1007/s10545-014-9713-8. Epub 2014 May 1. J Inherit Metab Dis. 2014. PMID: 24789340 Review.
Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. ...Over the past years several treatment options have been explored but no treatment has been proven effectiv
Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mejdahl Nielsen M, Petersen ET, Fenger CD, Ørngreen MC, Siebner HR, Boer VO, Považan M, Lund A, Grønborg SW, Hammer TB. Mejdahl Nielsen M, et al. Mol Genet Metab. 2023 Nov;140(3):107694. doi: 10.1016/j.ymgme.2023.107694. Epub 2023 Aug 30. Mol Genet Metab. 2023. PMID: 37708665 Free article. Review.
Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-linked intellectual disability. ...
Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-li
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Dunbar M, et al. Mol Genet Metab. 2014 Aug;112(4):259-74. doi: 10.1016/j.ymgme.2014.05.011. Epub 2014 May 29. Mol Genet Metab. 2014. PMID: 24953403 Review.
BACKGROUND: Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in indivi …
BACKGROUND: Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by r …
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J. Joncquel-Chevalier Curt M, et al. Biochimie. 2015 Dec;119:146-65. doi: 10.1016/j.biochi.2015.10.022. Epub 2015 Nov 2. Biochimie. 2015. PMID: 26542286 Review.
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Nasrallah F, Feki M, Kaabachi N. Nasrallah F, et al. Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Pediatr Neurol. 2010. PMID: 20159424 Review.
Patients with guanidinoacetate methyltransferase deficiency or creatine transporter deficiency may exhibit autistic behavior. The common denominator of these disorders is the depletion of the brain creatine pool, as demonstrated by in vivo proton magnetic res …
Patients with guanidinoacetate methyltransferase deficiency or creatine transporter deficiency may exhibit autistic beh …
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Stockler S, Schutz PW, Salomons GS. Stockler S, et al. Subcell Biochem. 2007;46:149-66. doi: 10.1007/978-1-4020-6486-9_8. Subcell Biochem. 2007. PMID: 18652076 Review.
Treatment of the creatine biosynthesis defects has yielded clinical improvement, while for creatine transporter deficiency, successful treatment strategies still need to be discovered. ...
Treatment of the creatine biosynthesis defects has yielded clinical improvement, while for creatine transporter deficiency
16 results