LEADER 05365nam 2200661Ia 450 001 9910141396803321 005 20170814174312.0 010 $a1-118-51467-X 010 $a1-283-64441-X 010 $a1-118-51469-6 010 $a1-118-51464-5 035 $a(CKB)2670000000242721 035 $a(EBL)1023289 035 $a(OCoLC)815389182 035 $a(SSID)ssj0000718997 035 $a(PQKBManifestationID)11411431 035 $a(PQKBTitleCode)TC0000718997 035 $a(PQKBWorkID)10745898 035 $a(PQKB)10343672 035 $a(OCoLC)813987805 035 $a(MiAaPQ)EBC1023289 035 $a(EXLCZ)992670000000242721 100 $a20120430h20122013 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aLysosomal storage disorders$b[electronic resource] $ea practical guide /$fedited by Atul Mehta, Bryan Winchester 210 $aChichester, West Sussex $cWiley-Blackwell$d2012, c2013 215 $a1 online resource (209 p.) 300 $aDescription based upon print version of record. 311 $a0-470-67087-8 320 $aIncludes bibliographical references and index. 327 $aLysosomal Storage Disorders: A Practical Guide; Copyright; Contents; List of Contributors; Preface; Foreword; Part 1 General Aspects of Lysosomal Storage Diseases; 1 The Lysosomal System: Physiology and Pathology; Introduction; The greater lysosomal system; Lysosomal diseases; References; 2 Clinical Aspects and Clinical Diagnosis; Introduction; Clinical presentation; References; 3 Laboratory Diagnosis of Lysosomal Storage Diseases; Referral to specialist laboratory; Preliminary screening tests on urine or blood; Diagnosis of lysosomal enzyme defects 327 $aLSDs due to defects in non-enzymatic proteinsNeuronal ceroid lipofuscinoses (NCLs); Molecular genetic testing; Prenatal diagnosis; Prospects; Acknowledgements; References; 4 Genetics of Lysosomal Storage Disorders and Counselling; Introduction; Genes, proteins, stored substrates, clinical phenotypes and diagnosis; Incidence and prevalence; Populations at a high-risk; Burden of illness; Population screening and diagnostic methods; Counselling issues; References; 5 Classification of Lysosomal Storage Diseases; Basis of classification of lysosomal storage diseases; Acknowledgements 327 $aPart 2 The Individual Diseases6 Gaucher Disease; A representative case history; Gaucher disease; Epidemiology; Etiology and pathogenesis:genetic basis; Clinical forms; Diagnosis; Biomarkers; Routine follow-up of patients; Enzyme replacement therapy (ERT) for Gaucher disease: alglucerase and imiglucerase; Dosing regimens; Malignancies; Global shortage of imiglucerase (June 2009); Other treatment options: substrater eduction therapy (SRT); Summary; References; 7 Fabry Disease; Epidemiology; Genetic basis; Pathophysiology; Clinical presentation; Natural history; Laboratory diagnosis; Treatment 327 $aTreatment guidelinesFurther reading; 8 The Gangliosidoses; References; 9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy; MLD and GLD; Case studies; Epidemiology; Genetics; Pathophysiology; Clinical presentation; Diagnosis by MRI; Laboratory diagnosis; Treatment; Natural history studies; References; 10 Types A and B Niemann-Pick Disease; Representative case histories; Epidemiology; Genetics; Pathophysiology; Clinical presentation; Natural history; Laboratory diagnosis; Treatment; Acknowledgements and conflicts of interest; References; 11 Niemann-Pick Disease Type C 327 $aCase historiesEpidemiology; Genetic basis; Pathophysiology; Clinical presentation; Natural history; Laboratory diagnosis; Treatment; References; 12 The Mucopolysaccharidoses; Epidemiology; Genetic basis; Pathophysiology; Clinical presentation; Natural history; Laboratory diagnosis; Treatment; Acknowledgements; References; 13 Pompe Disease; Case histories; Confusing nomenclature; Epidemiology; Genetic basis; Pathophysiology; Clinical presentation; Natural history; Enzymatic and molecular diagnosis; Treatment; Acknowledgment; Selected literature; 14 Glycoproteinoses; Epidemiology 327 $aPathophysiology 330 $a Awareness of lysomal storage disorders needs to be raised and there is very substantial pharmaceutical interest to do so. The disorders are often viewed as obscurities but in fact they are treatable. Enzyme replacement therapy is available for four of the disorders and will be available for a further three disorders in the course of the next year. Substrate reduction therapy is licensed for one of them but in the course of the next 12 months it will be licensed for two others and a new form of substrate reduction therapy is being introduced. These diseases present to a very wide range 606 $aLysosomal storage diseases 606 $aMetabolism$xDisorders 608 $aElectronic books. 615 0$aLysosomal storage diseases. 615 0$aMetabolism$xDisorders. 676 $a571.6/55 676 $a571.655 676 $a616.399 701 $aMehta$b Atul B$0897070 701 $aWinchester$b Bryan$0897071 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910141396803321 996 $aLysosomal storage disorders$92004369 997 $aUNINA