204 related articles for article (PubMed ID: 23716276)
21. The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
Puusepp H; Kall K; Salomons GS; Talvik I; Männamaa M; Rein R; Jakobs C; Õunap K
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S5-11. PubMed ID: 24137762
[TBL] [Abstract][Full Text] [Related]
22. A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study.
Molinaro A; Alessandrì MG; Putignano E; Leuzzi V; Cioni G; Baroncelli L; Pizzorusso T
Sci Rep; 2019 Jan; 9(1):62. PubMed ID: 30635645
[TBL] [Abstract][Full Text] [Related]
23. Cerebral creatine deficiency disorders - A clinical, genetic and follow up study from India.
Passi GR; Pandey S; Devi ARR; Konanki R; Jain AR; Bhatnagar S; Tripathi R; Jain V
Brain Dev; 2022 Apr; 44(4):271-280. PubMed ID: 34974949
[TBL] [Abstract][Full Text] [Related]
24. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
Comeaux MS; Wang J; Wang G; Kleppe S; Zhang VW; Schmitt ES; Craigen WJ; Renaud D; Sun Q; Wong LJ
Mol Genet Metab; 2013 Jul; 109(3):260-8. PubMed ID: 23660394
[TBL] [Abstract][Full Text] [Related]
25. Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.
El-Kasaby A; Kasture A; Koban F; Hotka M; Asjad HMM; Kubista H; Freissmuth M; Sucic S
Neuropharmacology; 2019 Dec; 161():107572. PubMed ID: 30885608
[TBL] [Abstract][Full Text] [Related]
26. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
Stockler-Ipsiroglu S; van Karnebeek CD
Semin Neurol; 2014 Jul; 34(3):350-6. PubMed ID: 25192512
[TBL] [Abstract][Full Text] [Related]
27. [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
Nozaki F; Kumada T; Shibata M; Fujii T; Wada T; Osaka H
No To Hattatsu; 2015 Jan; 47(1):49-52. PubMed ID: 25803912
[TBL] [Abstract][Full Text] [Related]
28. Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder.
Aydin HI
Indian Pediatr; 2018 Jan; 55(1):67-68. PubMed ID: 29396939
[TBL] [Abstract][Full Text] [Related]
29. Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
Heussinger N; Saake M; Mennecke A; Dörr HG; Trollmann R
Pediatr Neurol; 2017 Feb; 67():45-52. PubMed ID: 28065824
[TBL] [Abstract][Full Text] [Related]
30. Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.
Kato H; Miyake F; Shimbo H; Ohya M; Sugawara H; Aida N; Anzai R; Takagi M; Okuda M; Takano K; Wada T; Iai M; Yamashita S; Osaka H
Brain Dev; 2014 Aug; 36(7):630-3. PubMed ID: 24045174
[TBL] [Abstract][Full Text] [Related]
31. Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
Rostami P; Hosseinpour S; Ashrafi MR; Alizadeh H; Garshasbi M; Tavasoli AR
Acta Neurol Belg; 2020 Jun; 120(3):511-516. PubMed ID: 31222513
[TBL] [Abstract][Full Text] [Related]
32. Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability.
Jangid N; Surana P; Salmonos G; Jain V
BMJ Case Rep; 2020 Dec; 13(12):. PubMed ID: 33334757
[TBL] [Abstract][Full Text] [Related]
33. 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
Amino Acids; 2016 Aug; 48(8):1877-95. PubMed ID: 26861125
[TBL] [Abstract][Full Text] [Related]
34. Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.
Yıldız Y; Göçmen R; Yaramış A; Coşkun T; Haliloğlu G
Pediatrics; 2020 Nov; 146(5):. PubMed ID: 33093139
[TBL] [Abstract][Full Text] [Related]
35. Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.
Yu H; van Karnebeek C; Sinclair G; Hill A; Cui H; Zhang VW; Wong LJ
Mol Genet Metab; 2013 Dec; 110(4):465-71. PubMed ID: 24140398
[TBL] [Abstract][Full Text] [Related]
36. Classification of the Molecular Defects Associated with Pathogenic Variants of the
Salazar MD; Zelt NB; Saldivar R; Kuntz CP; Chen S; Penn WD; Bonneau R; Koehler Leman J; Schlebach JP
Biochemistry; 2020 Apr; 59(13):1367-1377. PubMed ID: 32207963
[TBL] [Abstract][Full Text] [Related]
37. Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
Joncquel-Chevalier Curt M; Bout MA; Fontaine M; Kim I; Huet G; Bekri S; Morin G; Moortgat S; Moerman A; Cuisset JM; Cheillan D; Vamecq J
Mol Genet Metab; 2018 Apr; 123(4):463-471. PubMed ID: 29478817
[TBL] [Abstract][Full Text] [Related]
38. 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
Mol Genet Metab; 2014 Aug; 112(4):259-74. PubMed ID: 24953403
[TBL] [Abstract][Full Text] [Related]
39. Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency.
Cacciante F; Gennaro M; Sagona G; Mazziotti R; Lupori L; Cerri E; Putignano E; Butt M; Do MT; McKew JC; Alessandrì MG; Battini R; Cioni G; Pizzorusso T; Baroncelli L
Sci Rep; 2020 Oct; 10(1):18361. PubMed ID: 33110151
[TBL] [Abstract][Full Text] [Related]
40. [Elucidation of Disease Mechanisms Based on Transport Function at Tissue Barriers and Challenges in Drug Development].
Ito S
Yakugaku Zasshi; 2019; 139(4):497-503. PubMed ID: 30930376
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
