. Lysosomal Storage Disorders
Lysosomal Storage Disorders Irina A. Anselm Lysosomal storage disorders (LSDs) comprise a group of approximately 30 relatively rare inherited diseases that are characterized by defective functioning of one…
Lysosomal Storage Disorders Irina A. Anselm Lysosomal storage disorders (LSDs) comprise a group of approximately 30 relatively rare inherited diseases that are characterized by defective functioning of one…
Nose and Sinus Ellen S. Deutsch and Cecille G. Sulman ANATOMY AND EMBRYOLOGY The nose is the major portal of air exchange between the internal and external environment….
Germ Cell Tumors Thomas A. Olson Germ cell tumors are infrequent tumors in childhood and adolescence. These neoplasms comprise 2% to 3% of all tumors diagnosed in children…
Disorders of Amino Acid Transport Across Cell Membranes Kirsti Näntö-Salonen and Ollie Simell Inherited defects in amino acid transport at the cell membrane (Fig. 143-1) are expressed as…
Endocrine Abnormalities Causing Growth Impairment Edward O. Reiter Most children with deficient pituitary function secrete inadequate amounts of growth hormone (GH); therefore, the term hypopituitarism is used interchangeably…
Depression, Anxiety, and Other Disorders Kim Peter Norman Mood disorders differ from the normal ups and downs of childhood and the moodiness of adolescence; they persist over time…
Fever and Infection in the Immunocompromised Patient David B. Haslam and Jeffrey Scott McKinney A key element in the effective care of immuno-compromised patients with fever and infection…
Strabismus Robert W. Enzenauer, Mary Ellen Hoehn, and Monte A. Del Monte Strabismus is the term used to describe any ocular misalignment. The term originates from the Greek…
Congenital Disorders of the Lower Airways and Mediastinum Andrew Bush Antenatal ultrasound diagnoses many congenital lung malformations, but we now have to decide what to do for a…
Genetic Disorders of the Skin Brook E. Tlougan and Amy S. Paller SELECTED GENETIC DISORDERS OF THE SKIN During the last decade, our understanding of the molecular bases…