Rare kidney diseases: 27 tables
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Basel [u.a.]
Karger
2001
|
| Schriftenreihe: | Contributions to nephrology
136 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Literaturangaben |
| Beschreibung: | X, 340 S. Ill., graph. Darst. : 25 cm |
| ISBN: | 3805572786 |
Internformat
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Datensatz im Suchindex
| _version_ | 1804128800921878528 |
|---|---|
| adam_text | Contents
IX Preface
Schieppati, A.; Daina, E. (Bergamo); Sessa, A. (Vimercate); Remuzzi, G. (Bergamo)
Rare Renal Diseases in Review
1 Liddle s Syndrome: Genetics and Mechanisms of Na+ Channel Defects
Warnock, D.G. (Birmingham, Ala.)
11 The Primary Hyperoxalurias
Marangella, M.; Petrarulo, M; Vitale, C; Bagnis, C; Berutti, S.; Ramello, A. (Turin);
Amoroso, A. (Trieste)
33 Update on Tuberous Sclerosis Complex
Torres, V.E.; King, B.F.; McKusick, M.A.; Bjornsson, J.;
Zincke, H. (Rochester, Minn.)
50 Autosomal Recessive Polycystic Kidney Disease
Sessa, A.; Meroni, M.; Righetti, M.; Battini, G.; Maglio, A.;
Puricelli, S.L. (Vimercate)
57 Juvenile Nephronophthisis and Related Variants: Clinical Features and
Molecular Approach
Caridi, G.; Dagnino, M. (Genoa); Miglietti, N. (Brescia); Carrea, A.; Perfumo, E;
Gusmano, R.; Ghiggeri, G.M. (Genoa)
68 Medullary Cystic Kidney Disease: Past and Present
Scolari, F. (Varese); Viola, B.F. (Brescia); Prati, E. (Desenzano); Ghiggeri, G.M.;
Caridi, G. (Genoa); Amoroso, A. (Trieste); Casari, G. (Milan); Majorca, R.
(Brescia)
79 Familial Hematuric Syndromes Alport Syndrome,Thin Glomerular
Basement Membrane Disease and Fechtner/Epstein Syndromes
Kashtan, C.E. (Minneapolis, Minn.)
100 Renal Involvement in Systemic Vasculitis
Sinico, R.A.; Sabadini, E.; Boeri, R.; Bonacina, E. (Milan)
125 Familial and Recurrent Forms of Hemolytic Uremic
Syndrome/Thrombotic Thrombocytopenic Purpura
Noris, M.; Remuzzi, G. (Bergamo)
140 Gene Therapy to the Kidney
Tomasoni, S.; Remuzzi, G.; Benigni, A. (Bergamo)
157 Hereditary Hypokalemic Salt LosingTubulopathies: Bartter Like
Syndromes
Peters, M.; Jeck, N.; Seyberth, H.W.; Konrad, M. (Marburg)
174 Fabry Disease (a Galactosidase A Deficiency): Renal Involvement and
Enzyme Replacement Therapy
Desnick, R.J.; Wasserstein, M.P.; Banikazemi, M. (New York)
193 The Challenge of Kidney Lesions in von Hippel Lindau Disease
Neumann, H.P.H. (Freiburg); Riegler, P.; Huber, W.; Corradini, R. (Bolzano); Sessa, A.
(Vimercate); Fontana, D. (Turin); Wetterauer, U. (Freiburg); Janetschek, G. (Linz)
208 Heterozygotes with Fabry s Disease
Griinfeld, J. P; Lidove, O.; Barbey, F. (Paris)
Special Problems with Fabry Disease, von Hippel Lindau Disease and
Tuberous Sclerosis Complex
211 The Role of Renal Biopsy in the Diagnosis of Fabry s Disease
Frasca, G.M.; Canova, C; Preda, P.; Pasquinelli, G.; Soverini, M.L.; Vangelista, A.;
Stefoni, S. (Bologna)
216 Anderson Fabry Disease: Molecular Analysis and Clinical
Manifestations in Three Italian Families
Torricelli, F.; Martinelli, F; Pelo, E.; Minuti, B.; Borsini, W.; Battini, M.L.;
Scordo, M.R.; Sodi, A.; Salvadori, M. (Florence)
223 Nonsense Mutation in Exon 2 of the a Galactosidase A Gene in a
Patient with Fabry Disease
Manni, E.; Fogli, A.; Baldinotti, F; Rossi, S.; Funel, N.; Barachini, P.;
Simi P. (Pisa)
229 Long Term Survival of Patients with Renal Transplantation in
Fabry s Disease
Mignani, R. (Rimini); Gerra, D. (Parma); Maldini, L.(Rimini); Bignardi, L. (Parma);
Casanova, S. (Bologna); Cambi, V. (Parma); Cagnoli, L. (Rimini)
234 A New Phenotype of Fabry Disease with Intermediate Severity
between the Classical Form and the Cardiac Variant
Germain, D.P. (Paris)
241 Neurological Manifestation of Fabry Disease in Females
Wendrich, K.; Whybra, C; Ries, M. (Mainz); Gal, A. (Hamburg);
Beck, M. (Mainz)
245 Clinical Manifestations in Female Fabry Disease Patients
Whybra, C; Wendrich, K.; Ries, M.(Mainz); Gal, A. (Hamburg); Beck, M. (Mainz)
251 Anderson Fabry Disease in Children and Adolescents
Beck, M.; Whybra, C; Wendrich, K. (Mainz); Gal, A. (Hamburg); Ries, M. (Mainz)
256 Angiokeratoma and Pain, But Not Fabry s Disease: Considerations for
Differential Diagnosis
Ries, M.; Wendrich, K.; Whybra, C; Kampmann, C. (Mainz); Gal, A. (Hamburg);
Beck, M. (Mainz)
260 Ocular Findings in Fabry s Disease
Iester, M. (Genoa); Sodi, A. (Florence); Occella, C; Vittone, P. (Genoa)
263 Molecular Diagnosis of von Hippel Lindau Disease
Murgia, A.; Martella, M.; Polli, R.; Piermarocchi, S.; Lo Giudice, G.;
Opocher, G. (Padua)
271 Search for Germline Mutation by DGGE in Italian von Hippel Lindau
Patients
Magnani, C, Passerini, E.; Pasini, B.; Regolo, P.; Fiore, T.; Libroia, A.; Verga, U.;
Ferrari, M. (Milan)
281 Multidisciplinar Surgical Treatment in a Case of von Hippel Lindau
with CNS Hemangioblastoma, Bilaterial Adrenal Pheochromocytoma
and Multiple Bilateral Renal Cell Carcinoma A Case Report
Baccari, P.; Colombo, R.; Spotti, D.; Giovanelli, M., Corlatti, M.; Staudacher, C.
(Milan)
284 Laparoscopic Bilateral Adrenalectomy in Patients with
Pheochromocytoma and von Hippel Lindau Disease
Baccari, P.; Corlatti, M.; Staudacher, C. (Milan)
292 Treatment of the Pulmonary Involvement in the Patient with
Tuberous Sclerosis Complex
Roccatello, D.; Obert, R.; Sena, G.M.; Longa, L.; Rossi, D.; Grosso, E.; Cavallo, R.;
Sena, L.M.; Giachino, O.; Migone, N. (Turin)
Contents VII
299 Malignant Epithelioid Renal Angiomyolipoma in a Case of Tuberous
Sclerosis with Multiple Organ Involvement
Mene, P.; Festuccia, E; Polci, R.; Faraggiana, T.; Gualdi, G.; Cinotti, G.A. (Rome)
306 Molecular Genetic Analysis of von Hippel Lindau Disease by
Denaturing High Performance Liquid Chromatography
Menegatti, E.; Ferrone, M.; Gallone, S.; Mameli, M.; Grosso, E.; Migone, N. (Turin)
312 Chronic Renal Failure and Renal Carcinoma in a Patient with Tuberous
Sclerosis: Clinical and Histological Aspects
Mij, M.; Cavatorta, E; Zollo, A.; Dolla, D. (Imperia), Vitale, A. (Savona); Monga, G.
(Novara)
318 Two Different Types of Renal Involvement in Tuberous Sclerosis
Complex
Scolari, F. (Varese); Viola, B.E; Grazioli, L. (Brescia); Longa, L. (Turin); Migone, N.;
Maiorca, R. (Brescia)
325 Von Hippel Lindau Syndrome Presenting as Pancreatic Cysts
Scolari, E (Varese); Viola., B.F.; Grazioli, L.; Maiorca, R. (Brescia)
331 Author Index
333 Subject Index
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| title | Rare kidney diseases 27 tables |
| title_auth | Rare kidney diseases 27 tables |
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| title_short | Rare kidney diseases |
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