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Record Nr. |
UNINA9910876633803321 |
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Titolo |
Lysosomal storage disorders : a practical guide / / edited by Atul Mehta, Bryan Winchester |
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Pubbl/distr/stampa |
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Chichester, West Sussex, : Wiley-Blackwell, 2012, c2013 |
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ISBN |
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1-118-51467-X |
1-283-64441-X |
1-118-51469-6 |
1-118-51464-5 |
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Descrizione fisica |
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1 online resource (209 p.) |
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Altri autori (Persone) |
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MehtaAtul B |
WinchesterBryan |
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Disciplina |
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Soggetti |
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Lysosomal storage diseases |
Metabolism - Disorders |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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Description based upon print version of record. |
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Nota di bibliografia |
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Includes bibliographical references and index. |
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Nota di contenuto |
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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 |
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