000			04521nam a22004575i 4500
001			978-90-481-9033-1
003			DE-He213
005			20140220084602.0
007			cr nn 008mamaa
008			100803s2010 ne | s |||| 0|eng d
020			_a9789048190331 _9978-90-481-9033-1
024	7		_a10.1007/978-90-481-9033-1 _2doi
050		4	_aRC627.5-632
072		7	_aMFGM _2bicssc
072		7	_aMED027000 _2bisacsh
082	0	4	_a616.39 _223
100	1		_aElstein, Deborah. _eeditor.
245	1	0	_aFabry Disease _h[electronic resource] / _cedited by Deborah Elstein, Gheona Altarescu, Michael Beck.
264		1	_aDordrecht : _bSpringer Netherlands : _bImprint: Springer, _c2010.
300			_aXXXVII, 512p. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_aPre-Clinical -- Molecular Genetics of Fabry Disease and Genotype–Phenotype Correlation -- The Structure of Human ?-Galactosidase A and Implications for Fabry Disease -- Subcellular, Cellular and Organ Pathology of Fabry Disease -- Biochemistry of Fabry Disease -- Clinically Relevant Examples of Genotype–Phenotype Correlation -- Laboratory Diagnosis of Fabry Disease -- Biomarkers for Fabry Disease -- Fabry Disease Case Finding Studies in High-Risk Populations -- Small Molecule Drug Discovery for Fabry Disease -- Clinical -- Clinical Manifestations of Fabry Disease: An Overview -- The Heart in Fabry Disease – from Pathogenesis to Enzyme Replacement Therapy -- Renal Manifestations of Fabry Disease -- Neurological Manifestations in Fabry Disease -- Dermatological Manifestations of Fabry Disease -- Histopathology of Skin in Fabry Disease -- Bone and Muscle Involvement in Fabry Disease -- The Eye in Fabry Disease -- Pulmonary, Ear and Less Commonly Appreciated Manifestations -- Neuropsychiatric Manifestations of AFD -- Genetic Counseling and Psychosocial Issues for Individuals and Their Families with Fabry Disease -- Fabry Disease in Females -- Fabry Disease in Pediatric Patients -- Experimental Studies in Mice on the Vasculopathy of Fabry Disease -- Management -- Overview -- Agalsidase Alfa in the Treatment of Anderson-Fabry Disease -- Agalsidase Beta Clinical Trials and Long Term Experience -- Analyses of Agalsidase Alfa and Agalsidase Beta for the Treatment of Fabry Disease -- Enzyme Replacement Therapy in Children with Fabry Disease -- Pharmacological Chaperone Therapy for Fabry Disease -- Potential Factors Influencing Treatment Outcomes -- Symptomatic and Ancillary Therapy -- The Price of Care Versus the Cost of Caring.
520			_aFabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
650		0	_aMedicine.
650		0	_aHuman genetics.
650		0	_aMetabolic diseases.
650	1	4	_aMedicine & Public Health.
650	2	4	_aMetabolic Diseases.
650	2	4	_aHuman Genetics.
700	1		_aAltarescu, Gheona. _eeditor.
700	1		_aBeck, Michael. _eeditor.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9789048190324
856	4	0	_uhttp://dx.doi.org/10.1007/978-90-481-9033-1
912			_aZDB-2-SME
999			_c113574 _d113574