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Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
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 …
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