These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
169 related articles for article (PubMed ID: 19188083)
21. Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF. Haas D; Gan-Schreier H; Langhans CD; Anninos A; Haege G; Burgard P; Schulze A; Hoffmann GF; Okun JG Gene; 2014 Mar; 538(1):188-94. PubMed ID: 24440240 [TBL] [Abstract][Full Text] [Related]
22. Disorders of creatine transport and metabolism. Longo N; Ardon O; Vanzo R; Schwartz E; Pasquali M Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):72-8. PubMed ID: 21308988 [TBL] [Abstract][Full Text] [Related]
23. Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. Osaka H; Takagi A; Tsuyusaki Y; Wada T; Iai M; Yamashita S; Shimbo H; Saitsu H; Salomons GS; Jakobs C; Aida N; Toshihiro S; Kuhara T; Matsumoto N Mol Genet Metab; 2012 May; 106(1):43-7. PubMed ID: 22472424 [TBL] [Abstract][Full Text] [Related]
25. Severe epilepsy in X-linked creatine transporter defect (CRTR-D). Mancardi MM; Caruso U; Schiaffino MC; Baglietto MG; Rossi A; Battaglia FM; Salomons GS; Jakobs C; Zara F; Veneselli E; Gaggero R Epilepsia; 2007 Jun; 48(6):1211-3. PubMed ID: 17553121 [TBL] [Abstract][Full Text] [Related]
26. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Mancini GM; Catsman-Berrevoets CE; de Coo IF; Aarsen FK; Kamphoven JH; Huijmans JG; Duran M; van der Knaap MS; Jakobs C; Salomons GS Am J Med Genet A; 2005 Jan; 132A(3):288-95. PubMed ID: 15690373 [TBL] [Abstract][Full Text] [Related]
27. Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. Kleefstra T; Rosenberg EH; Salomons GS; Stroink H; van Bokhoven H; Hamel BC; de Vries BB Clin Genet; 2005 Oct; 68(4):379-81. PubMed ID: 16143026 [No Abstract] [Full Text] [Related]
28. 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]
29. Methods for the diagnosis of creatine deficiency syndromes: a comparative study. Arias A; Ormazabal A; Moreno J; González B; Vilaseca MA; García-Villoria J; Pàmpols T; Briones P; Artuch R; Ribes A J Neurosci Methods; 2006 Sep; 156(1-2):305-9. PubMed ID: 16621013 [TBL] [Abstract][Full Text] [Related]
30. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. Thurm A; Himelstein D; DʼSouza P; Rennert O; Jiang S; Olatunji D; Longo N; Pasquali M; Swedo S; Salomons GS; Carrillo N J Dev Behav Pediatr; 2016 May; 37(4):322-6. PubMed ID: 27096572 [TBL] [Abstract][Full Text] [Related]
31. A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency. Cervera-Acedo C; Lopez M; Aguirre-Lamban J; Santibañez P; Garcia-Oguiza A; Poch-Olive ML; Dominguez-Garrido E Hum Genome Var; 2015; 2():15037. PubMed ID: 27081545 [TBL] [Abstract][Full Text] [Related]
32. Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography-mass spectrometry. Valongo C; Cardoso ML; Domingues P; Almeida L; Verhoeven N; Salomons G; Jakobs C; Vilarinho L Clin Chim Acta; 2004 Oct; 348(1-2):155-61. PubMed ID: 15369749 [TBL] [Abstract][Full Text] [Related]
33. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. Valayannopoulos V; Bakouh N; Mazzuca M; Nonnenmacher L; Hubert L; Makaci FL; Chabli A; Salomons GS; Mellot-Draznieks C; Brulé E; de Lonlay P; Toulhoat H; Munnich A; Planelles G; de Keyzer Y J Inherit Metab Dis; 2013 Jan; 36(1):103-12. PubMed ID: 22644605 [TBL] [Abstract][Full Text] [Related]
34. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Rosenberg EH; Martínez Muñoz C; Betsalel OT; van Dooren SJ; Fernandez M; Jakobs C; deGrauw TJ; Kleefstra T; Schwartz CE; Salomons GS Hum Mutat; 2007 Sep; 28(9):890-6. PubMed ID: 17465020 [TBL] [Abstract][Full Text] [Related]
35. Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene. Martínez-Muñoz C; Rosenberg EH; Jakobs C; Salomons GS Gene; 2008 Jul; 418(1-2):53-9. PubMed ID: 18515020 [TBL] [Abstract][Full Text] [Related]
36. [Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease]. Campistol J; Arias-Dimas A; Poo P; Pineda M; Hoffman M; Vilaseca MA; Artuch R; Ribes A Rev Neurol; 2007 Mar 16-31; 44(6):343-7. PubMed ID: 17385170 [TBL] [Abstract][Full Text] [Related]
38. Phenotypic variability in a portuguese family with x-linked creatine transport deficiency. Garcia P; Rodrigues F; Valongo C; Salomons GS; Diogo L Pediatr Neurol; 2012 Jan; 46(1):39-41. PubMed ID: 22196490 [TBL] [Abstract][Full Text] [Related]
39. Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency. Ullio-Gamboa G; Udobi KC; Dezard S; Perna MK; Miles KN; Costa N; Taran F; Pruvost A; Benoit JP; Skelton MR; Lonlay P; Mabondzo A Nanomedicine (Lond); 2019 Jun; 14(12):1579-1593. PubMed ID: 31038003 [TBL] [Abstract][Full Text] [Related]
40. Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Tise CG; Palma MJ; Cusmano-Ozog KP; Matalon DR J Investig Med High Impact Case Rep; 2023; 11():23247096231154438. PubMed ID: 36752093 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]