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Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Inborn Errors of Metabolism
This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
Manual of Neonatal Care
This edition of the Manual of Neonatal Care has been completely updated and extensively revised to reflect the changes in fetal, perinatal, and neonatal care that have occurred since the sixth edition. This portable text covers current and practical approaches to evaluation and management of conditions encountered in the fetus and the newborn, as practiced in high volume clinical services that include contemporary prenatal and postnatal care of infants with routine, as well as complex medical and surgical problems. Written by expert authors from the Harvard Program in Neonatology and other major neonatology programs across the United States, the manual’s outline format gives readers rapid ...
Texas Children's Hospital Handbook of Pediatrics and Neonatology
An essential pocket manual for anyone who treats children "This is a unique and novel approach to a pediatric handbook. It is the first that I can remember that is written by house staff, although it is reviewed by attendings and is very thorough. 3 Stars."--Doody's Revivew Service Featuring an instant-access, find-it-now presentation, Texas Children’s Hospital Handbook of Pediatrics and Neonatology delivers concise, evidence-based information that is directly applicable to bedside care of the patient in both pediatrics and neonatology. Authored and reviewed by more than 125 residents, fellows, and faculty at Texas Children’s Hospital in Houston, Texas, this compact guide features conten...
The Law of Wills
None
Genodermatoses
"Aimed at dermatologists, pediatricians and family physicians, this resource can be used for both board preparation and clinical practice. Each syndrome is presented in easy-to-read, two-page spreads that include full body diagrams and clinical photographs. The material is summarized in bulleted text that lists the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, lab findings, management and prognosis. Clinical pearls are interspersed through the text. This second edition updates previous chapters and includes new syndromes, such as PHACE, AEC, EEC, Griscelli and Birt-Hogg-Dube. Annotation : 2004 Book News, Inc., Portland, OR (booknews.com)"--[source inconnue].
