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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.
Treatment did not lead to a significant increase in cerebral creatine content as observed with H(1)-MRS. After an initial improvement in locomotor and personal-social IQ subscales, no lasting clinical improvement was recorded. ...
Treatment did not lead to a significant increase in cerebral creatine content as observed with H(1)-MRS. After an initial improvement …
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance.
Tanner LM, Näntö-Salonen K, Niinikoski H, Jahnukainen T, Keskinen P, Saha H, Kananen K, Helanterä A, Metso M, Linnanvuo M, Huoponen K, Simell O. Tanner LM, et al. J Pediatr. 2007 Jun;150(6):631-4, 634.e1. doi: 10.1016/j.jpeds.2007.01.043. J Pediatr. 2007. PMID: 17517249
STUDY DESIGN: The clinical information in a cohort of 39 Finnish patients with LPI was analyzed retrospectively. RESULTS: Proteinuria was observed in 74% of the patients and hematuria was observed in 38% of the patients during follow-up. ...
STUDY DESIGN: The clinical information in a cohort of 39 Finnish patients with LPI was analyzed retrospectively. RESULTS: Proteinuria was …