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Two patients with arthrogryposis–renal tubular dysfunction–cholestasis syndrome in a Japanese family

✍ Scribed by YOHEI IKEZUMI; NAOYUKI KABUKI; HIROSHI HAYAKAWA; TOSHIHARU MATSUI; TETSUKI GUNJI; MAKOTO UCHIYAMA


Book ID
108971153
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
265 KB
Volume
48
Category
Article
ISSN
1328-8067

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In nine patients with different types of proximal tubulopathy and a nearly normal glomerular filtration rate a low uptake of 99mTc-DMSA in kidneys was found. The underlying mechanism seems to be an increased urinary excretion of 99mTc-DMSA. This radiopharmaceutical might be used as a marker of proxi