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Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM. van de Kamp JM, et al. J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10. J Inherit Metab Dis. 2012. PMID: 21556832 Free PMC article.
After an initial improvement in locomotor and personal-social IQ subscales, no lasting clinical improvement was recorded. Additionally, we noticed an age-related decline in IQ subscales in boys affected with the CRTR defect....
After an initial improvement in locomotor and personal-social IQ subscales, no lasting clinical improvement was recorded. Additionall …
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Valayannopoulos V, Boddaert N, Chabli A, Barbier V, Desguerre I, Philippe A, Afenjar A, Mazzuca M, Cheillan D, Munnich A, de Keyzer Y, Jakobs C, Salomons GS, de Lonlay P. Valayannopoulos V, et al. J Inherit Metab Dis. 2012 Jan;35(1):151-7. doi: 10.1007/s10545-011-9358-9. Epub 2011 Jun 10. J Inherit Metab Dis. 2012. PMID: 21660517
PATIENTS AND METHODS: We report here a series of six patients with severe CTP deficiency, four males and two females; clinical presentations include mild to severe mental retardation (6/6), associated with psychiatric symptoms (5/6: autistic behaviour, chronic hallucinator …
PATIENTS AND METHODS: We report here a series of six patients with severe CTP deficiency, four males and two females; clinical presen …
Hypocarnitinemia in lysinuric protein intolerance.
Korman SH, Raas-Rothschild A, Elpeleg O, Gutman A. Korman SH, et al. Mol Genet Metab. 2002 May;76(1):81-3. doi: 10.1016/s1096-7192(02)00019-7. Mol Genet Metab. 2002. PMID: 12175786