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Biomarkers in inborn errors of metabolism : clinical aspects and laboratory determination / / Uttam Garg, Laurie Smith
| Biomarkers in inborn errors of metabolism : clinical aspects and laboratory determination / / Uttam Garg, Laurie Smith |
| Autore | Garg Uttam |
| Pubbl/distr/stampa | Amsterdam, Netherlands ; ; Oxford, England ; ; Cambridge, Massachusetts : , : Elsevier, , 2017 |
| Descrizione fisica | 1 online resource (450 pages) : illustrations (some color) |
| Disciplina | 616.39042 |
| Collana | Clinical Aspects and Laboratory Determination of Biomarkers Series |
| Soggetto topico |
Metabolism, Inborn errors of
Diagnosis, Laboratory |
| ISBN |
0-12-802918-8
0-12-802896-3 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910583055103321 |
Garg Uttam
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| Amsterdam, Netherlands ; ; Oxford, England ; ; Cambridge, Massachusetts : , : Elsevier, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke
| A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke |
| Autore | Clarke Joe T. R |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 |
| Descrizione fisica | 1 online resource (307 p.) |
| Disciplina | 616.3/9042 |
| Soggetto topico |
Metabolism, Inborn errors of
Diagnosis, Differential |
| Soggetto genere / forma | Electronic books. |
| ISBN |
1-107-12616-9
1-280-15980-4 9786610159802 1-139-13040-4 0-511-12192-X 0-511-04288-4 0-511-14782-1 0-511-05466-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Cover; Half-title; Title; Copyright; Dedicaton; Contents; Preface; Foreword; 1 General principles; 2 Neurologic syndrome; 3 Metabolic acidosis; 4 Hepatic syndrome; 5 Cardiac syndromes; 6 Storage syndrome and dysmorphism; 7 Acute metabolic illness in the newborn; 8 Newborn screening; 9 Laboratory investigation; 10 Treatment; Index |
| Record Nr. | UNINA-9910450291003321 |
|
Clarke Joe T. R
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| Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke
| A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke |
| Autore | Clarke Joe T. R |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 |
| Descrizione fisica | 1 online resource (307 p.) |
| Disciplina | 616.3/9042 |
| Soggetto topico |
Metabolism, Inborn errors of
Diagnosis, Differential |
| ISBN |
1-107-12616-9
1-280-15980-4 9786610159802 1-139-13040-4 0-511-12192-X 0-511-04288-4 0-511-14782-1 0-511-05466-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Cover; Half-title; Title; Copyright; Dedicaton; Contents; Preface; Foreword; 1 General principles; 2 Neurologic syndrome; 3 Metabolic acidosis; 4 Hepatic syndrome; 5 Cardiac syndromes; 6 Storage syndrome and dysmorphism; 7 Acute metabolic illness in the newborn; 8 Newborn screening; 9 Laboratory investigation; 10 Treatment; Index |
| Record Nr. | UNINA-9910777398303321 |
|
Clarke Joe T. R
|
||
| Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke
| A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke |
| Autore | Clarke Joe T. R |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 |
| Descrizione fisica | 1 online resource (307 p.) |
| Disciplina | 616.3/9042 |
| Soggetto topico |
Metabolism, Inborn errors of
Diagnosis, Differential |
| ISBN |
1-107-12616-9
1-280-15980-4 9786610159802 1-139-13040-4 0-511-12192-X 0-511-04288-4 0-511-14782-1 0-511-05466-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Cover; Half-title; Title; Copyright; Dedicaton; Contents; Preface; Foreword; 1 General principles; 2 Neurologic syndrome; 3 Metabolic acidosis; 4 Hepatic syndrome; 5 Cardiac syndromes; 6 Storage syndrome and dysmorphism; 7 Acute metabolic illness in the newborn; 8 Newborn screening; 9 Laboratory investigation; 10 Treatment; Index |
| Record Nr. | UNINA-9910813975003321 |
|
Clarke Joe T. R
|
||
| Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia
| Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia |
| Pubbl/distr/stampa | Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 |
| Descrizione fisica | 1 online resource (393 p.) |
| Disciplina | 616.3/9042 |
| Collana | Oxford Monographs on Medical Genetics |
| Soggetto topico | Metabolism, Inborn errors of |
| Soggetto genere / forma | Electronic books. |
| ISBN |
0-19-939850-X
0-19-979768-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Series; Inborn Errors of Metabolism; Copyright; Contents; Contributors; About the Editors; Introduction; Section 1 Newborn Screening; 1 Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation; Section 2 Pathways; 2 Human Glycosylation Disorders: Many Faces, Many Pathways; 3 Gluconeogenesis; 4 Branched Chain Amino Acid Disorders; 5 Glycolysis; 6 Urea Cycle: Ureagenesis and Non-Ureagenic Functions; 7 Fatty Acid Metabolism and Defects; 8 Mitochondrial Disorders; 9 Cholesterol, Sterols, and Isoprenoids; 10 Disorders of One-Carbon Metabolism
11 Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)Section 3 Therapeutic Approaches; 12 Cell and Organ Transplantation for Inborn Errors of Metabolism; 13 Gene Replacement Therapy for Inborn Errors of Metabolism; 14 Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders; 15 Chaperone Therapy for the Lysosomal Storage Disorders; 16 Substrate Deprivation Therapy; Index; Colour Plate |
| Record Nr. | UNINA-9910463712803321 |
| Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia
| Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia |
| Pubbl/distr/stampa | Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 |
| Descrizione fisica | 1 online resource (393 p.) |
| Disciplina | 616.3/9042 |
| Collana | Oxford Monographs on Medical Genetics |
| Soggetto topico | Metabolism, Inborn errors of |
| ISBN |
0-19-939850-X
0-19-979768-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Series; Inborn Errors of Metabolism; Copyright; Contents; Contributors; About the Editors; Introduction; Section 1 Newborn Screening; 1 Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation; Section 2 Pathways; 2 Human Glycosylation Disorders: Many Faces, Many Pathways; 3 Gluconeogenesis; 4 Branched Chain Amino Acid Disorders; 5 Glycolysis; 6 Urea Cycle: Ureagenesis and Non-Ureagenic Functions; 7 Fatty Acid Metabolism and Defects; 8 Mitochondrial Disorders; 9 Cholesterol, Sterols, and Isoprenoids; 10 Disorders of One-Carbon Metabolism
11 Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)Section 3 Therapeutic Approaches; 12 Cell and Organ Transplantation for Inborn Errors of Metabolism; 13 Gene Replacement Therapy for Inborn Errors of Metabolism; 14 Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders; 15 Chaperone Therapy for the Lysosomal Storage Disorders; 16 Substrate Deprivation Therapy; Index; Colour Plate |
| Record Nr. | UNINA-9910787948803321 |
| Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia
| Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia |
| Pubbl/distr/stampa | Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 |
| Descrizione fisica | 1 online resource (393 p.) |
| Disciplina | 616.3/9042 |
| Collana | Oxford Monographs on Medical Genetics |
| Soggetto topico | Metabolism, Inborn errors of |
| ISBN |
0-19-939850-X
0-19-979768-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Series; Inborn Errors of Metabolism; Copyright; Contents; Contributors; About the Editors; Introduction; Section 1 Newborn Screening; 1 Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation; Section 2 Pathways; 2 Human Glycosylation Disorders: Many Faces, Many Pathways; 3 Gluconeogenesis; 4 Branched Chain Amino Acid Disorders; 5 Glycolysis; 6 Urea Cycle: Ureagenesis and Non-Ureagenic Functions; 7 Fatty Acid Metabolism and Defects; 8 Mitochondrial Disorders; 9 Cholesterol, Sterols, and Isoprenoids; 10 Disorders of One-Carbon Metabolism
11 Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)Section 3 Therapeutic Approaches; 12 Cell and Organ Transplantation for Inborn Errors of Metabolism; 13 Gene Replacement Therapy for Inborn Errors of Metabolism; 14 Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders; 15 Chaperone Therapy for the Lysosomal Storage Disorders; 16 Substrate Deprivation Therapy; Index; Colour Plate |
| Record Nr. | UNINA-9910819863403321 |
| Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Inborn metabolic diseases : diagnosis and treatment / / Jean-Marie Saudubray [and three others]
| Inborn metabolic diseases : diagnosis and treatment / / Jean-Marie Saudubray [and three others] |
| Edizione | [Seventh edition.] |
| Pubbl/distr/stampa | Berlin, Germany : , : Springer-Verlag GmbH Germany, , [2022] |
| Descrizione fisica | 1 online resource (906 pages) |
| Disciplina | 616.39042 |
| Soggetto topico | Metabolism, Inborn errors of |
| ISBN | 3-662-63123-7 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910580178803321 |
| Berlin, Germany : , : Springer-Verlag GmbH Germany, , [2022] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD reports
| JIMD reports |
| Pubbl/distr/stampa | Berlin, : SSIEM and Springer-Verlag, ©2011 |
| Disciplina | 616.39042 |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism, Inborn errors of - Research Metabolism, Inborn Errors |
| Soggetto genere / forma |
Periodical
Fulltext Internet Resources. Case studies. Periodicals. |
| ISSN | 2192-8312 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti |
Journal of inherited metabolic disorders reports
Case and research reports |
| Record Nr. | UNINA-9910130745203321 |
| Berlin, : SSIEM and Springer-Verlag, ©2011 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD reports
| JIMD reports |
| Pubbl/distr/stampa | Berlin, : SSIEM and Springer-Verlag, ©2011 |
| Disciplina | 616.39042 |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism, Inborn errors of - Research Metabolism, Inborn Errors |
| Soggetto genere / forma |
Periodical
Fulltext Internet Resources. Case studies. Periodicals. |
| ISSN | 2192-8312 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti |
Journal of inherited metabolic disorders reports
Case and research reports |
| Record Nr. | UNISA-996321019503316 |
| Berlin, : SSIEM and Springer-Verlag, ©2011 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
| ||
