|
|
|
|
| LEADER |
00000cam a2200000 a 4500 |
| 001 |
7632567 |
| 005 |
20130312140300.0 |
| 008 |
090129s2009 ne a b 001 0 eng |
| 003 |
ICU |
| 015 |
|
|
|a GBA8A9039
|2 bnb
|
| 016 |
7 |
|
|a 014753812
|2 Uk
|
| 016 |
7 |
|
|a 101497192
|2 DNLM
|
| 019 |
|
|
|a 253210872
|
| 020 |
|
|
|a 9780124498518 (hbk.)
|
| 020 |
|
|
|a 0124498515 (hbk.)
|
| 035 |
|
|
|a (OCoLC)305127928
|z (OCoLC)253210872
|
| 035 |
|
|
|a co2365930
|
| 040 |
|
|
|a UKM
|c UKM
|d YDXCP
|d CUX
|d MMU
|d NLM
|d ZCH
|d FUH
|d UAB
|
| 042 |
|
|
|a ukscp
|
| 049 |
|
|
|a CGUA
|
| 050 |
1 |
4 |
|a RC902
|b .G46 2009
|
| 060 |
0 |
0 |
|a 2009 B-993
|
| 060 |
1 |
0 |
|a WJ 300
|b G3277 2009
|
| 082 |
0 |
4 |
|a 616.61042
|2 22
|
| 245 |
0 |
0 |
|a Genetic diseases of the kidney /
|c edited by Richard P. Lifton ... [et al.].
|
| 260 |
|
|
|a Amsterdam ;
|a London :
|b Academic Press,
|c 2009.
|
| 300 |
|
|
|a xiv, 829 p. :
|b ill. (some col.) ;
|c 29 cm.
|
| 336 |
|
|
|a text
|b txt
|2 rdacontent
|0 http://id.loc.gov/vocabulary/contentTypes/txt
|
| 337 |
|
|
|a unmediated
|b n
|2 rdamedia
|0 http://id.loc.gov/vocabulary/mediaTypes/n
|
| 338 |
|
|
|a volume
|b nc
|2 rdacarrier
|0 http://id.loc.gov/vocabulary/carriers/nc
|
| 504 |
|
|
|a Includes bibliographical references and index.
|
| 505 |
0 |
|
|a Pt.I. General background.-- Genetic approaches to human disease / Richard P. Lifton, Lynn M. Boyden.-- Clinical applications of genetics / Lisa M. Guay-Woodford, Nine V.A.M. Dnoers.-- Pt. II.A. Primary genetic diseases of nephron function.-- Logic of the kidney / Orson, W. Moe, Gerhard H. Giebisch, Donald W. Seldin.-- B. Primary genetic diseases of the glomerulus.-- Alport's disease and thin basement membrane nephropathy / Karl Tryggvason, Jaakko Patrakka.-- Idiopathic nephrotic syndrome / Ernie L. Esquivel, Corinne Antignae.-- Focal segmental glomerulosclerosis / Krishna R. Polu, Martin R. Pollack.-- C. Primary genetic diseases of the proximal renal tubules.-- Diseases of renal glucose handling / Ernest M. Wright.-- Primary inherited aminoacidurias: genetic defects in the renal handling of amino acids / Manuel Palacin.-- Primary renal uricosuria / Makoto Hosoyamada, Kimiyoshi Ichida, Tatsuo Hosoya, Hitoshi Endou.-- Fanconi syndrome / Orson W. Moe, Donald W. Seldin, Michel Baum.-- Proximal renal tubular acidosis / Peter S. Aronson, Gerhard Giebisch.-- Dent's disease / Steven J. Scheinman.--
|
| 505 |
0 |
|
|a D. Primary genetic diseases of the thick ascending limb of henle.-- Molecular genetics of gitelman's and bartter's syndromes and their implications for blood pressure variation / Ute I. Scholl, Richard P. Lifton.-- Molecular genetics of magnesium homeostatis / William S. Asch, Richard P. Lifton.-- Inherited diseases of the calcium-sensing receptor: impact on parathyroid and renal function / Edward M. Brown, Steven C. Herbert.-- E. Primary genetic diseases of the distal convoluted tubule and collecting duct.-- Liddle's syndrome (Pseudoaldosteronism) / Laurent Schild, Bernard C. Rossier.-- Syndrome of apparent mineralcorticoid excess / Perrin C. White.-- Pseudohypaldosteronism type 1 hypertension exacerbated in pregnancy / David S. Geller.-- Syndrome of hypertension and hyperkalemia (pseudohypoaldosteroinism type II) WNK kinases regulate the balance between renal salt reabsorption and potassium secretion / Kristopher T. Kahle, Frederick H. Wilson, Richard Pl Lifton.-- Distal renal tubular acidosis / Fiona E. Karet.-- Nephrogenic diabetes insipidus: vasopressin receptor defect / Daniel G. Bichet.-- Nephrogenic diabetes insipidus: aquaporin-2 defect / Peter M.T. Deen, Carel H. van Os, Nine V.A.M. Knoers.--
|
| 505 |
0 |
|
|a Part.III. Genetic abnormalities of renal development and morphogenesis.-- Overview of renal development / Arnaud Marlier, Lloyd G. Cantley.-- Polycystic kidney disease / Stefan Somlo, Lisa M. Guay-Woodford.-- Nephronophthisis / Friedhelm Hildebrandt.-- Medullary cystic disease / Anthony J. Bleyer, Thomas C. Hart.-- Renal dysgenesis / Fangming Lin, Vishal Patel, Peter Igarashi.-- Part.IV. Inherited neoplastic diseases affecting the kidney.-- Genetic basis of cancer of the kidney / Robert L. Grubb III, McClellan M. Walther, W. Marston Linehan.-- Wilms' tumor / Sunny Hartwig, Jordan A. Kriedberg,-- Tuberous sclerosis / David J. Kwiatkowski.-- Part.V. Systemic diseases with renal involvement: monogenic disorders / Nail-Patella syndrome / Roy Morello, Daryl Scott, Brendan Lee.-- Mitochondrial diseases of the kidney / Ali Hariri.-- Primary hyperoxaluria / Scott D. Cramer, Tatsuya Takayama.-- Oculocerebrorenal syndrome of Lowe / Steven G. Coca, Robert F. Reilly.-- Fabry's diseases (alpha-galactosidase A deficiency): an x-linked nephropathy / R.J. Desnick.-- Hereditary fructose intolerance / Timothy M. Cox.-- Brancio-oto-renal syndrome / Nine V.A.M. Knoers, Cox W.J.R. Gremers.--
|
| 505 |
0 |
|
|a Primary metabolic and renal hyperuricernia / Kimiyoshi Ichida, Makoto Hosoyamada, Tatsuo Hosoya, Hitoshi Endou.-- Hereditary cystinosis / Vasiliki Kalatzis, Corinne Antignac.-- Hepatorenal tyrosinemia / Robert M. Tanguay, Anne Bergeron, Rossana Jorquera.-- Renal disease in type 1 glycogen storage disease / Janice Y. Chou, Brian C. Mansfield, David A. Weinstein.-- Wilson disease and the kidney / Michael L. Schilsky, Pramod Kumar Mistry.-- Genetic defects in renal phosphate handling / Carsten A. Wagner, Nati Hernando, Ian C. Forster, Jurg Biber, Heini Murer.-- Part.VI. Systemic hereditary diseases with renal involvement: multifactorial diseases.-- Genetic susceptibility to kidney disease as a consequence of systemic autoimmunity / Andrew Want, Chandra Mohan, Edward K. Wakeland.-- IgA nephropathy / Isabel Beerman, Francesco Scolari, Ali Gharavi.-- Susceptibility to diabetic nepyhropathy / Barry I. Freedman, Donald W. Bowden, Stephen S. Rich.-- HIV-associated nephropathy / Christina M. Wyatt, Paul E. Klotman.
|
| 520 |
|
|
|a Genetic Diseases of the Kidney identifies and analyzes genetic abnormalities causing renal diseases in human subjects. Although in a sense the genome contains all the instructions required for the formation of a phenotype, the information is encoded in an extremely complicated fashion. In primary genetic diseases, the genetic instruction specifies a phenotype clearly linked with a discreet lesion confined to the kidney. However, the genetic disturbance may be imbedded in a complicated physiologic ensemble, so that the nexus between the genetic disturbance and the phenotype may be obscured; in consequence, the causal sequence is extremely difficult to unravel. In many instances the renal disease is one component of a complicated systemic hereditary disease, either monogenic or polygenic. Indeed, renal disease may arise as the sum of minor inputs from many different, seemingly unrelated genes, so that the genetic contributions may be difficult to identify. Confounding the problem further are environmental influences, originating either in the chromosomal environment from modifier genes, or in the extra-chromosomal environmental from intrauterine or postnatal influences. These considerations have determined both the organization of the text as well as the detailed description of the genetic disorders and the physiologic derangements that emerge. * Lays the essential foundation of mammalian genetics principles for medical professionals with little to no background in genetics. Analyzes specific renal diseases - both monogenic disorders confined to the kidney as well as systemic diseases with renal involvement - and explains their genetic causes. World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension).
|
| 650 |
|
0 |
|a Kidneys
|x Diseases
|x Genetic aspects.
|
| 650 |
1 |
2 |
|a Kidney Diseases
|x genetics.
|
| 650 |
2 |
2 |
|a Kidney Diseases
|x physiopathology.
|
| 650 |
|
7 |
|a Kidneys
|x Diseases
|x Genetic aspects.
|2 fast
|0 http://id.worldcat.org/fast/fst00987398
|
| 700 |
1 |
|
|a Lifton, Richard P.
|0 http://id.loc.gov/authorities/names/n99802968
|1 http://viaf.org/viaf/271376104
|
| 903 |
|
|
|a HeVa
|
| 929 |
|
|
|a cat
|
| 999 |
f |
f |
|i cfc98270-2bc9-577d-9fc7-866024db282b
|s 36d84e2b-a1a1-5aec-b12f-e4352e552dc2
|
| 928 |
|
|
|t Library of Congress classification
|a RC903 .G46 2009
|l JCL
|c JCL-Sci
|i 5368996
|
| 927 |
|
|
|t Library of Congress classification
|a RC903 .G46 2009
|l JCL
|c JCL-Sci
|e BELF
|e CRERAR
|b 088670091
|i 8557522
|
