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European Journal of Pediatrics|November 11, 1998
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literatureR Santer, R Schneppenheim, D Suter, et al.
Pediatric Research|April 1, 1976
Hydantoin-5-propionic aciduria in folic acid nondependent formiminoglutamic aciduria observed in two siblingsA Niederwieser, A Matasović, B Steinmann, et al.
Cardiology|January 21, 2000
Early-onset familial dilatation of the ascending aortaM Beghetti, B Steinmann, D Didier, et al.
Human Molecular Genetics|September 1, 1994
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)D T Bonthron, N Brady, I A Donaldson, et al.
European Journal of Pediatrics|May 1, 1988
The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literatureC Rudin, L Thommen, C Fliegel, et al.
American Journal of Medical Genetics|August 26, 1998
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosisA Jarisch, C Giunta, S Zielen, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 1, 1996
Effects of peritoneal effluents on mesothelial cells in culture: cell proliferation and extracellular matrix regulationF Perfumo, P Altieri, M L Degl'Innocenti, et al.
Peritoneal Dialysis International : Journal of the International Society for Peritoneal Dialysis|January 1, 1990
Continuous ambulatory peritoneal dialysis (CAPD) of children with amino acid solutions: technical and metabolic aspectsA Canepa, F Perfumo, A Carrea, et al.
Journal of Endocrinological Investigation|November 1, 1992
Delayed puberty in uremia: pituitary-gonadal function during short-term pulsatile luteinizing hormone-releasing hormone administrationM Giusti, F Perfumo, E Verrina, et al.
Clinical Nephrology|July 1, 1991
Autoreactive lymphocytotoxic IgM antibodies in highly sensitized dialysis patients waiting for a kidney transplant: identification and clinical relevanceS Barocci, U Valente, R Gusmano, et al.
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