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Lysosomal storage disorders [[electronic resource] ] : a practical guide / / edited by Atul Mehta, Bryan Winchester
| Lysosomal storage disorders [[electronic resource] ] : a practical guide / / edited by Atul Mehta, Bryan Winchester |
| Pubbl/distr/stampa | Chichester, West Sussex, : Wiley-Blackwell, 2012, c2013 |
| Descrizione fisica | 1 online resource (209 p.) |
| Disciplina |
571.6/55
571.655 616.399 |
| Altri autori (Persone) |
MehtaAtul B
WinchesterBryan |
| Soggetto topico |
Lysosomal storage diseases
Metabolism - Disorders |
| Soggetto genere / forma | Electronic books. |
| ISBN |
1-118-51467-X
1-283-64441-X 1-118-51469-6 1-118-51464-5 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Lysosomal 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
LSDs 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 Part 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 Treatment 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 Case 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 Pathophysiology |
| Record Nr. | UNINA-9910141396803321 |
| Chichester, West Sussex, : Wiley-Blackwell, 2012, c2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Lysosomal storage disorders [[electronic resource] ] : a practical guide / / edited by Atul Mehta, Bryan Winchester
| Lysosomal storage disorders [[electronic resource] ] : a practical guide / / edited by Atul Mehta, Bryan Winchester |
| Pubbl/distr/stampa | Chichester, West Sussex, : Wiley-Blackwell, 2012, c2013 |
| Descrizione fisica | 1 online resource (209 p.) |
| Disciplina |
571.6/55
571.655 616.399 |
| Altri autori (Persone) |
MehtaAtul B
WinchesterBryan |
| Soggetto topico |
Lysosomal storage diseases
Metabolism - Disorders |
| ISBN |
1-118-51467-X
1-283-64441-X 1-118-51469-6 1-118-51464-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Lysosomal 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
LSDs 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 Part 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 Treatment 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 Case 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 Pathophysiology |
| Record Nr. | UNINA-9910830080603321 |
| Chichester, West Sussex, : Wiley-Blackwell, 2012, c2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||