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Giant vesicles / / edited by Pier Luigi Luisi and Peter Walde
| Giant vesicles / / edited by Pier Luigi Luisi and Peter Walde |
| Pubbl/distr/stampa | Chichester ; ; New York, : Wiley, c2000 |
| Descrizione fisica | 1 online resource (428 p.) |
| Disciplina | 571.6/55 |
| Altri autori (Persone) |
LuisiP. L
WaldePeter |
| Collana | Perspectives in supramolecular chemistry |
| Soggetto topico | Liposomes |
| ISBN |
9786612122309
9781282122307 1282122304 9780470511534 0470511532 9780470511527 0470511524 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | pt. 1. Introduction -- pt. 2. Preparation methods -- pt. 3. Basic theoretical aspects -- pt. 4. Physical properties -- pt. 5. Chemical and biological aspects. |
| Record Nr. | UNINA-9911019081303321 |
| Chichester ; ; New York, : Wiley, c2000 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Lysosomal storage disorders : a practical guide
| Lysosomal storage disorders : a practical guide |
| Autore | Mehta Atul B |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Newark : , : John Wiley & Sons, Incorporated, , 2022 |
| Descrizione fisica | 1 online resource (339 pages) |
| Disciplina | 571.6/55 |
| Altri autori (Persone) | WinchesterBryan |
| Soggetto genere / forma | Electronic books. |
| ISBN |
1-119-69731-X
1-119-69730-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910585800903321 |
Mehta Atul B
|
||
| Newark : , : John Wiley & Sons, Incorporated, , 2022 | ||
| 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 |
| 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 | ||
| ||
Lysosomal storage disorders : a practical guide / / edited by Atul Mehta, Bryan Winchester
| Lysosomal storage disorders : 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 |
| Altri autori (Persone) |
MehtaAtul B
WinchesterBryan |
| Soggetto topico |
Lysosomal storage diseases
Metabolism - Disorders |
| ISBN |
9781118514672
111851467X 9781283644419 128364441X 9781118514696 1118514696 9781118514641 1118514645 |
| 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-9911019144803321 |
| Chichester, West Sussex, : Wiley-Blackwell, 2012, c2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||