Aminoacidemias and Organic Acidemias
Chapter 32 Aminoacidemias and Organic Acidemias Gregory M. Enns, Tina M. Cowan, Ophir Klein, Seymour Packman Approximately 4 percent of individuals born in the United States have a genetic or…
Diseases Associated with Primary Abnormalities in Carbohydrate Metabolism
Chapter 34 Diseases Associated with Primary Abnormalities in Carbohydrate Metabolism Marc C. Patterson, Kenneth F. Swaiman Introduction Carbohydrates are essential elements in the cellular energy economy, and the inability to…
Disorders of Forebrain Development
Chapter 23 Disorders of Forebrain Development Elliott H. Sherr, Jin S. Hahn Introduction The prosencephalon forms at the end of primary neurulation as one of three principal vesicles: the hindbrain,…
Degenerative Disorders Primarily of Gray Matter
Chapter 41 Degenerative Disorders Primarily of Gray Matter Rose-Mary N. Boustany, Mohamad K. El-Bitar This chapter groups together the seemingly disparate entities of Rett’s syndrome (RTT), Menkes’ disease, Alpers’ disease,…
Genetic and Metabolic Disorders of the White Matter
Chapter 71 Genetic and Metabolic Disorders of the White Matter Adeline Vanderver, Nicole I. Wolf Introduction Over the past two decades, an increasing number of novel heritable disorders affecting the…
Malformations of Cortical Development
Chapter 26 Malformations of Cortical Development William B. Dobyns, Renzo Guerrini, Richard J. Leventer Development of the human cerebral cortex is a complex and tightly regulated process that can be…
Vision Loss
Chapter 6 Vision Loss Douglas R. Fredrick In children, the complaint of blurred vision or vision loss is often nonspecific and may be difficult to elicit. Although most causes of…
Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence
Chapter 97 Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence Qing Dong, Stephen M. Rosenthal Introduction Through integrated neural and hormonal signaling, the hypothalamus and pituitary regulate…
Disorders of the Autonomic Nervous System: Autonomic Dysfunction in Pediatric Practice
Chapter 98 Disorders of the Autonomic Nervous System Autonomic Dysfunction in Pediatric Practice Felicia B. Axelrod Introduction The autonomic nervous system (ANS) is pervasive and affects every organ in the…
Congenital Anomalies of the Skull
Chapter 28 Congenital Anomalies of the Skull Pedro A. Sanchez-Lara, John M. Graham, Jr. Introduction Congenital anomalies of the skull can arise any time during gestation and must be distinguished…
