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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 | ||
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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 |
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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 | ||
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Genetic Variation and Nutrition : : 1st International Conference, Washington, June 1989: Proceedings / / editors, A.P. Simopoulos, B. Childs
| Genetic Variation and Nutrition : : 1st International Conference, Washington, June 1989: Proceedings / / editors, A.P. Simopoulos, B. Childs |
| Autore | Simopoulos A.P |
| Edizione | [1st ed.] |
| Pubbl/distr/stampa | Basel : , : S. Karger, , 1990 |
| Descrizione fisica | 1 online resource (XII + 300 pages) : : 32 figures, 49 tables |
| Disciplina |
612/.3 s
616.3/9042 |
| Altri autori (Persone) |
SimopoulosArtemis P. <1933->
ChildsBarton |
| Collana | Issn Series |
| Soggetto topico |
Nutrition
Genetics Cardiovascular System Diabetes Preventive Medicine |
| ISBN |
9783318042474
3318042471 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910158696203321 |
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Simopoulos A.P
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| Basel : , : S. Karger, , 1990 | ||
| 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 | ||
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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 |
| 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 | ||
| ||
JIMD reports : case and research reports, 2012/5 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor
| JIMD reports : case and research reports, 2012/5 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Berlin, : Springer, 2013 |
| Descrizione fisica | 1 online resource (153 p.) |
| Disciplina | 616.3/9042 |
| Altri autori (Persone) |
ZschockeJohannes
GibsonK. Michael BrownGarry MoravaEva PetersVerena |
| Collana | JIMD reports |
| Soggetto topico | Metabolism, Inborn errors of |
| ISBN |
1-283-91002-0
3-642-33433-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
JIMD Reports - Case and Research Reports, 2012/5; Contents; The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity; Abstract; Introduction; Materials and Methods; Ethics Statement; Subjects; Genotyping; Overexpression of ASM Variants; Western Blot Analysis; In Vitro Determination of ASM Activity; Web Resources; Results; High Frequency of ASM Sequence Variation c.1460C>T in the General Population; Carriers of c.1460C>T Do Not Display Decreased Levels of ASM Activity
ASM Variant p.A487V is Catalytically Active Upon Transient OverexpressionDiscussion; Author Contributions; References; The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE; Abstract; Introduction; Methods; Case Reports; Discussion; Conclusion; References; A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine; Abstract; Introduction; Methods; Preparation of the Study Reagents; Statistical Analysis; Results; Discussion; References; ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients; Abstract IntroductionPatients and Methods; Patients; Blood/Serum Transferrin IEF; ALG6 Mutation Analysis; Results; Clinical and Biochemical Description of Patients; Blood/Serum Transferrin IEF; ALG6 Mutational Analysis; Discussion; Competing Interests; References; Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome?; Abstract; Introduction; Case Report; Discussion; Acknowledgments; References A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage DisordersAbstract; Background; Methods; Ethics Approvals; Participants; 3D Image Acquisition; Anthropometric Masks and Facial Mapping; Statistical Face-Space; Dysmorphometrics and Normal Equivalents; Scoring, Analysis and Visualisation of Facial Variants; Normative Population Reference Statistics; Results; Discussion; Conclusions; Authors ́ Information; Synopsis; Authors ́ Contributions; Guarantor; Competing Interests; References Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage DiseaseAbstract; Introduction; Case History; Discussion; Synopsis; Conflicts of Interest and Financial Disclosures; References; Inheritance of the m.3243A>G mutation; Abstract; Introduction; Methods; Results; Discussion; Conflicts of Interest; Key Sentence/Synopsis; References; Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage; Abstract; Background; Methods; Results and Discussion; ERT Current Situation; Basic Principles of Treatment Criteria for Prioritization |
| Record Nr. | UNINA-9910437993303321 |
| Berlin, : Springer, 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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JIMD Reports - Case and Research Reports, Volume 13 / / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports - Case and Research Reports, Volume 13 / / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (164 p.) |
| Disciplina |
616.3/9042
616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolism - Disorders Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology Genètica humana Fisiologia humana Trastorns del metabolisme Pediatria |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-642-54149-6 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
""Contents""; ""Newborn Screening for Glutaric Aciduria-II: The New England Experience""; ""Abstract""; ""Introduction""; ""Methods and Population""; ""Results""; ""Discussion""; ""Synopsis""; ""Conflict of Interest""; ""Informed Consent/Human or Animal Studies""; ""Authors Attestations""; ""References""; ""Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening...""; ""Abstract""; ""Introduction""; ""Washington Newborn Screening""; ""Analyte Selection and Review""; ""Cutoff Determinations""; ""Post-Analytical Tools""
""Limitations""""Conclusion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Animal Rights and Human Subjects""; ""Details of the Contributions of Individual Authors""; ""References""; ""Application of a Second-Tier Newborn Screening Assay for C5 Isoforms""; ""Abstract""; ""Introduction""; ""Case Report""; ""Materials and Methods""; ""Results""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Details of the Contributions of Individual Authors""; ""References""; ""Cystinosis with Sclerotic Bone Lesions""; ""Abstract""; ""Case Report""; ""Discussion"" ""Conclusion""""Conflict of Interest""; ""Informed Consent""; ""Contributions of the Individual Authors""; ""References""; ""Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Take-Home Message""; ""Compliance with Ethical Guidelines""; ""References""; ""Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation""; ""Abstract""; ""Case Report""; ""Discussion""; ""Summary""; ""Compliance with Ethics Guidelines""; ""References"" ""Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprote...""""Abstract""; ""Introduction""; ""Materials and Methods""; ""Subject""; ""Diet Loading Test""; ""GC-MS Analysis""; ""LC-MS/MS Analysis""; ""Cell Culture""; ""RT-PCR""; ""PCR-Restriction Fragment Length Polymorphism (PCR-RFLP)""; ""Results""; ""Feline MADD""; ""Sequencing of Feline ETFα, ETFbeta, and ETFDH""; ""Presence of a Novel Mutation in the Cat with MADD""; ""Discussion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""References"" ""Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome""""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""References""; ""Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach ...""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Patient""; ""Exchange Transfusion (ET) Procedure""; ""Analysis of LPL Gene""; ""Results"" ""ET Procedure and Follow-Up"" |
| Record Nr. | UNINA-9910300343303321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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JIMD reports-- case and research reports, 2012/4 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor
| JIMD reports-- case and research reports, 2012/4 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Heidelberg, : Springer, : SSIEM, 2013 |
| Descrizione fisica | 1 online resource (131 p.) |
| Disciplina |
616.3/9042
616.39042 |
| Altri autori (Persone) |
BrownGarry
ZschockeJohannes GibsonK. Michael MoravaEva PetersVerena |
| Collana | JIMD reports |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism - Disorders Medical genetics |
| ISBN |
1-283-63178-4
9786613944238 3-642-32442-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
JIMD Reports -Case and Research Reports, 2012/4; Contents; Necrotizing Enterocolitis and Respiratory Distress Syndromeas First Clinical Presentation of Mitochondrial TrifunctionalProtein Deficiency; Abstract; Introduction; Materials and Methods; Case 1; Case 2; Classification; Analytical Methods; Discussion; Synopsis; Conflict of Interest; References; Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?; Abstract; Introduction; Case Report; Discussion; References; Hereditary Intrinsic Factor Deficiency in Chaldeans; Abstract
IntroductionPatients and Methods; Patients and Samples; Methods; Results and Discussion; Declaration; Synopsis; Authors ́ Contributions; References to Electronic Databases; References; Mutation Analysis in Glycogen Storage DiseaseType III Patients in the Netherlands: NovelGenotype-Phenotype Relationships and FiveNovel Mutations in the AGL Gene; Abstract; Introduction; Materials and Methods; Results; Discussion; Synopsis; Conflicts of Interest; References; Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency; Abstract; Introduction; Case Report; Discussion ReferencesQuality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease; Abstract; Introduction; Methods; Medical Outcomes Study: 36-Item Short Form Health Survey (SF-36); Statistical Analysis; Definition of Clinically Significant Change; Results; Gaucher Disease (n=21); Fabry Disease (n=14); Comparisons Between GD and FD Patients Receiving ERT and Other Populations; Discussion; Gaucher Disease; Fabry Disease; Conclusion; Synopsis of the Article; Authors Contributions; Guarantor for the Article; Competing Interest; Funding; Ethics Approval; Patient Consent; References Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe DiseaseAbstract; Introduction; Material and Methods; Patients; GAA Mutational Analysis; Functional Analysis of GAA Mutations; Results; GAA Mutation Detection and In Silico Analysis; Functional Characterization of GAA Mutations; Discussion; References; Successful Live Birth following Preimplantation GeneticDiagnosis for Phenylketonuria in Day 3 Embryos by SpecificMutation Analysis and Elective Single Embryo Transfer; Abstract; Introduction; Materials and Methods; Results; Discussion SynopsisConflict of Interest; References; The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I; Abstract; Introduction; Methods; Results; Discussion; Synopsis; References to Electronic Databases; References; Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome; Introduction; Case Report; Discussion; Conclusions; Conflict of Interest Statement; References; Autism Spectrum Disorder in a Child with Propionic Acidemia; Abstract; Introduction; Case Report; Psychiatric Evaluation; Discussion; Synopsis Competing Interests |
| Record Nr. | UNINA-9910438005803321 |
| Heidelberg, : Springer, : SSIEM, 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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