Índice

• • ·Inborn Errors of Metabolism

    Página :i

    Ayman W. El-Hattab, V. Reid Sutton

    
• • ·Copyright

    Página :ii

    
• • ·CME Accreditation Page

    Página :iii

    
• • ·Contributors

    Página :v

    Esquema Esquema
• • ·Contents

    Página :ix

    Esquema Esquema
• • ·Forthcoming Issues

    Página :xiii

    Esquema Esquema
• • ·Erratum

    Página :xv

    
• • ·New Understanding of Mechanisms and New Hope for Treatments

    Página :xvii

    Bonita F. Stanton

     
• • ·Approach to Inborn Errors of Metabolism in Pediatrics

    Página :xix

    Ayman W. El-Hattab, V. Reid Sutton

     
• • ·Inborn Errors of Metabolism Overview : Pathophysiology, Manifestations, Evaluation, and Management

    Página :179-208

    Jean-Marie Saudubray, Àngels Garcia-Cazorla

    Resumen Resumen Esquema Esquema  
• • ·Inborn Errors of Metabolism with Acidosis : Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism

    Página :209-230

    Lori-Anne P. Schillaci, Suzanne D. DeBrosse, Shawn E. McCandless

    Resumen Resumen Esquema Esquema  
• • ·Inborn Errors of Metabolism with Hyperammonemia : Urea Cycle Defects and Related Disorders

    Página :231-246

    Marshall L. Summar, Nicholas Ah Mew

    Resumen Resumen Esquema Esquema  
• • ·Inborn Errors of Metabolism with Hypoglycemia : Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

    Página :247-265

    David A. Weinstein, Ulrike Steuerwald, Carolina F.M. De Souza, Terry G.J. Derks

    Resumen Resumen Esquema Esquema  
• • ·Inborn Errors of Metabolism with Cognitive Impairment : Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine

    Página :267-277

    Evgenia Sklirou, Uta Lichter-Konecki

    Resumen Resumen Esquema Esquema  
• • ·Inborn Errors of Metabolism with Seizures : Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders

    Página :279-299

    Mohammed Almannai, Ayman W. El-Hattab

    Resumen Resumen Esquema Esquema  
• • ·Inborn Errors of Metabolism with Movement Disorders : Defects in Metal Transport and Neurotransmitter Metabolism

    Página :301-315

    Trishna Kantamneni, Lileth Mondok, Sumit Parikh

    Resumen Resumen Esquema Esquema  
• • ·Inborn Errors of Metabolism with Myopathy : Defects of Fatty Acid Oxidation and the Carnitine Shuttle System

    Página :317-335

    Areeg El-Gharbawy, Jerry Vockley

    Resumen Resumen Esquema Esquema  
• • ·Inborn Errors of Metabolism with Hepatopathy : Metabolism Defects of Galactose, Fructose, and Tyrosine

    Página :337-352

    Didem Demirbas, William J. Brucker, Gerard T. Berry

    Resumen Resumen Esquema Esquema  
• • ·Inborn Errors of Metabolism Involving Complex Molecules : Lysosomal and Peroxisomal Storage Diseases

    Página :353-373

    Cinzia Maria Bellettato, Leroy Hubert, Maurizio Scarpa, Michael F. Wangler

    Resumen Resumen Esquema Esquema  
• • ·Complex Phenotypes in Inborn Errors of Metabolism : Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders

    Página :375-388

    Thatjana Gardeitchik, Jeroen Wyckmans, Eva Morava

    Resumen Resumen Esquema Esquema  
• • ·Newborn Screening : History, Current Status, and Future Directions

    Página :389-405

    Ayman W. El-Hattab, Mohammed Almannai, V. Reid Sutton

    Resumen Resumen Esquema Esquema