Biomarkers in inborn errors of metabolism : clinical aspects and laboratory determination /

Detalles Bibliográficos
Clasificación:Libro Electrónico
Autores principales: Garg, Uttam (Autor), Smith, Laurie D., 1957- (Autor)
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Amsterdam, Netherland : Elsevier, 2017.
Colección:Clinical aspects and laboratory determination of biomarkers series.
Temas:
Metabolism, Inborn errors of.
Diagnosis, Laboratory.
Metabolism, Inborn Errors
Maladies m�etaboliques cong�enitales.
Diagnostics biologiques.
HEALTH & FITNESS > Diseases > General.
MEDICAL > Clinical Medicine.
MEDICAL > Diseases.
MEDICAL > Evidence-Based Medicine.
MEDICAL > Internal Medicine.
Diagnosis, Laboratory
Metabolism, Inborn errors of
Electronic books.
Internet Resources.
Charts.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Front Cover; Biomarkers in Inborn Errors of Metabolism; Copyright Page; Contents; List of Contributors; Biographies; Preface; 1 Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism; 1.1 Introduction; 1.2 Laboratory Biomarkers and Tests in Diagnosis of IEM; 1.3 Specimen Types; 1.4 Specimen Collection and Processing; 1.5 Specimen Analysis, Quality Control, and Quality Assurance; 1.6 Method Selection and Evaluation; 1.7 Treatment and Prognosis; References; 2 Amino acids disorders; 2.1 Introduction; 2.2 Phenylketonuria (PKU)
  • 2.2.1 Brief Description of the Disorder and Pathway2.2.2 Brief Description of Treatment; 2.2.3 Biomarkers for Diagnosis; 2.2.4 Biomarkers Followed for Treatment Efficacy; 2.3 Non-PKU Hyperphenylalaninemias; 2.3.1 Brief Description of the Disorder and Pathway; 2.3.2 Brief Description of Treatment; 2.3.3 Biomarkers for Diagnosis; 2.3.4 Biomarkers Followed for Treatment Efficacy; 2.4 Tyrosinemias; 2.4.1 Brief Description of the Disorder and Pathway; 2.4.2 Biomarkers for Diagnosis; 2.4.3 Biomarkers Followed for Treatment Efficacy; 2.4.4 Confounding Conditions
  • 2.5 Nonketotic Hyperglycinemia (Glycine Encephalopathy)2.5.1 Brief Description of the Disorder and Pathway; 2.5.2 Brief Description of Treatment; 2.5.3 Biomarkers for Diagnosis; 2.5.4 Biomarkers Followed for Treatment Efficacy; 2.5.5 Other Biomarkers; 2.6 Maple Syrup Urine Disease; 2.6.1 Brief Description of the Disorder and Pathway; 2.6.2 Brief Description of Treatment; 2.6.3 Biomarkers for Diagnosis; 2.6.4 Biomarkers Followed for Treatment Efficacy; 2.6.5 Biomarkers Followed for Disease Progression; 2.6.6 Other Biomarkers: Less Established, Future; 2.7 Homocystinuria
  • 2.7.1 Brief Description of the Disorder and Pathway2.7.2 Brief Description of Treatment; 2.7.3 Biomarkers for Diagnosis; 2.7.4 Biomarkers Followed for Treatment Efficacy; 2.7.5 Other Biomarkers: Less Established, Future; 2.8 Hypermethioninemia; 2.8.1 Brief Description of the Disorder and Pathway; 2.8.2 Brief Description of Treatment; 2.8.3 Biomarkers for Diagnosis; 2.8.4 Biomarkers Followed for Treatment Efficacy; 2.8.5 Biomarkers Followed for Disease Progression; 2.8.6 Confounding Conditions That Can Cause Hypermethioninemia; 2.8.7 Other Biomarkers: Less Established, Future
  • 2.9 Hyperprolinemia2.9.1 Brief Description of the Disorder and Pathway; 2.9.2 Brief Description of Treatment; 2.9.3 Biomarkers for Diagnosis; 2.10 Sulfocysteinuria; 2.10.1 Brief Description of the Disorder and Pathway; 2.10.2 Brief Description of Treatment; 2.10.3 Biomarkers for Diagnosis; 2.10.4 Biomarkers Followed for Treatment Efficacy; 2.10.5 Confounding Conditions; 2.11 Cystinuria (OMIM: 220100); 2.11.1 Brief Description of the Disorder and Pathway; 2.11.2 Brief Description of Treatment; 2.11.3 Biomarkers for Diagnosis; 2.11.4 Biomarkers Followed for Treatment Efficacy

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