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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. This review describes the current knowledge regarding creatine metabolism, …
Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability ch …
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, seizu …
BACKGROUND: Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metaboli …
The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development.
Ghirardini E, Calugi F, Sagona G, Di Vetta F, Palma M, Battini R, Cioni G, Pizzorusso T, Baroncelli L. Ghirardini E, et al. Genes (Basel). 2021 Jul 24;12(8):1123. doi: 10.3390/genes12081123. Genes (Basel). 2021. PMID: 34440297 Free PMC article. Review.
Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the SLC6A8 gene and presenting with intellectual disability, autistic behavior, and epilepsy. ...
Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense m …
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.
Creatine deficiency syndromes, which have only recently been described, represent a group of inborn errors of creatine synthesis (L-arginine-glycine amidinotransferase deficiency and guanidinoacetate methyltransferase deficiency) and transport ( …
Creatine deficiency syndromes, which have only recently been described, represent a group of inborn errors of creatine …
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.
A specific plasma membrane transporter, creatine transporter [CRTR] (SLC6A8), further enables cells to incorporate creatine and through uptake of its precursor, guanidinoacetate, also directly contributes to creatine biosynthesis. Breakthrough i …
A specific plasma membrane transporter, creatine transporter [CRTR] (SLC6A8), further enables cells to incorporate c …
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Clark JF, Cecil KM. Clark JF, et al. Pediatr Res. 2015 Mar;77(3):398-405. doi: 10.1038/pr.2014.203. Epub 2014 Dec 18. Pediatr Res. 2015. PMID: 25521922 Review.
Within the past two decades, a group of disorders featuring this presentation have been identified as cerebral creatine deficiency syndromes (CCDS). Patients with these disorders were initially discerned using proton magnetic resonance spectroscopy of the brain with …
Within the past two decades, a group of disorders featuring this presentation have been identified as cerebral creatine deficiency …
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.
Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i.e. arginine:glycine amidinotransferase deficiency (AGAT; …
Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autos …
Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
Stockler-Ipsiroglu S, van Karnebeek CD. Stockler-Ipsiroglu S, et al. Semin Neurol. 2014 Jul;34(3):350-6. doi: 10.1055/s-0034-1386772. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192512 Review.
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X- …
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine defic …
Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
Hanna-El-Daher L, Braissant O. Hanna-El-Daher L, et al. Amino Acids. 2016 Aug;48(8):1877-95. doi: 10.1007/s00726-016-2189-0. Epub 2016 Feb 10. Amino Acids. 2016. PMID: 26861125 Review.
While it has long been thought that most of cerebral creatine is of peripheral origin, the last 20 years has provided evidence that the creatine synthetic pathway (AGAT and GAMT enzymes) is expressed in the brain together with the creatine transporter …
While it has long been thought that most of cerebral creatine is of peripheral origin, the last 20 years has provided evidence that t …
16 results