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Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability.
Turk J Pediatr. 2011 Mar-Apr;53(2):194-8.
Turk J Pediatr. 2011.
PMID: 21853658
Long-term clinical outcome in patients with congenital chloride diarrhea.
Hihnala S, Höglund P, Lammi L, Kokkonen J, Ormälä T, Holmberg C.
Hihnala S, et al.
J Pediatr Gastroenterol Nutr. 2006 Apr;42(4):369-75. doi: 10.1097/01.mpg.0000214161.37574.9a.
J Pediatr Gastroenterol Nutr. 2006.
PMID: 16641574
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A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.
Moore MW, Dietz LG, Tirtorahardjo B, Cotter PD.
Moore MW, et al.
Hum Mutat. 2003 Jun;21(6):645-8. doi: 10.1002/humu.10222.
Hum Mutat. 2003.
PMID: 12754712
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