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American Journal of Medical Genetics|May 7, 2002
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndromeC Giunta, L Nuytinck, M Raghunath, et al.Journal of Inherited Metabolic Disease|November 13, 2007
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarkerP Paesold-Burda, M R Baumgartner, R Santer, et al.European Radiology|April 18, 2002
Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlationT A G M Huisman, T Thiel, B Steinmann, et al.Nephron|January 1, 1994
Intact renal albumin downregulates the extracellular matrix expression by mesangial cells and renal fibroblasts in vitroG M Ghiggeri, P Altieri, R Oleggini, et al.American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|June 20, 2006
Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutationG M Ghiggeri, F Aucella, G Caridi, et al.The Biochemical Journal|September 15, 1994
Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndromeM Raghunath, C M Kielty, K Kainulainen, et al.The Journal of Infectious Diseases|January 1, 1994
Community-wide outbreak of hemolytic-uremic syndrome associated with non-O157 verocytotoxin-producing Escherichia coliA Caprioli, I Luzzi, F Rosmini, et al.Kidney International|July 1, 1987
Renal selectivity properties towards endogenous albumin in minimal change nephropathyG M Ghiggeri, G Candiano, F Ginevri, et al.European Journal of Human Genetics : EJHG|October 22, 1998
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasiaE Mornet, A Taillandier, S Peyramaure, et al.Clinical Nephrology|November 1, 1989
Analysis of cellular populations in peritoneal effluents of children on CAPDM T Valle, M L Degl'Innocenti, P Giordano, et al.Pageof 31