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Myeloma crystal tubulopathy and Fanconi syndrome: a rare histological findingAPPLETON, Jason P; DAY, Clara; NEIL, Desley et al.British journal of haematology. 2012, Vol 158, Num 1, issn 0007-1048, p. 1Article

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A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosisBESBAS, Nesrin; DRAAKEN, Markus; LUDWIG, Michael et al.European journal of pediatrics. 2009, Vol 168, Num 12, pp 1449-1454, issn 0340-6199, 6 p.Article

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In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutationNOZU, Kandai; IIJIMA, Kazumoto; YOSHIKAWA, Norishige et al.Human genetics. 2009, Vol 126, Num 4, pp 533-538, issn 0340-6717, 6 p.Article

PHEX analysis in 118 pedigrees reveals new genetic dues in hypophosphatemic ricketsGAUCHER, Céline; WALRANT-DEBRAY, Odile; NGUYEN, Thy-Minh et al.Human genetics. 2009, Vol 125, Num 4, pp 401-411, issn 0340-6717, 11 p.Article

Aminoacidurias : Clinical and molecular aspectsCAMARGO, S. M. R; BOCKENHAUER, D; KLETA, R et al.Kidney international. 2008, Vol 73, Num 8, pp 918-925, issn 0085-2538, 8 p.Article

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Novel SLC12A3 Mutations in Chinese Patients with Gitelman's SyndromeLEPING SHAO; HONG REN; WEIMING WANG et al.The Nephron journals. 2008, Vol 108, Num 3, issn 1660-8151, P29-P36Article

Partial Fanconi Syndrome Induced by Imatinib Therapy : A Novel Cause of Urinary Phosphate LossFRANCOIS, Helene; COPPO, Paul; HAYMAN, Jean-Philippe et al.American journal of kidney diseases. 2008, Vol 51, Num 2, pp 298-301, issn 0272-6386, 4 p.Article

Urinary Protein Excretion Pattern and Renal Expression of Megalin and Cubilin in Nephropathic CystinosisWILMER, Martijn J; CHRISTENSEN, Erik I; VAN DEN HEUVEL, Lambertus P et al.American journal of kidney diseases. 2008, Vol 51, Num 6, pp 893-903, issn 0272-6386, 11 p.Article

Acquired Gitelman Syndrome in a Patient With Primary Sjögren SyndromeYONG KYUN KIM; HO CHEOL SONG; EUI JIN CHOI et al.American journal of kidney diseases. 2008, Vol 52, Num 6, pp 1163-1167, issn 0272-6386, 5 p.Article