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Genetics, Newborn Screening, and Inborn Errors of Metabolism, An Issue of Clinics in Perinatology: The Clinics: Orthopedics, cartea 52-3

Editat de Patrick K. Gallagher, Alex R. Kemper
en Limba Engleză Hardback – 23 sep 2025
In this issue of Clinics in Perinatology, guest editors Drs. Patrick Gallagher and Alex R. Kemperbring their considerable expertise to the topic of Genetics, Newborn Screening, and Inborn Errors of Metabolism. Early recognition through newborn screening is vital for detecting the 6,000 potentially affected newborns each year in the U.S., as timely treatment can prevent early death and long-term morbidity. In this issue, top experts provides important clinical updates in genetic testing, genome sequencing, and newborn screening.
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Specificații

ISBN-13: 9780443343209
ISBN-10: 0443343209
Pagini: 240
Dimensiuni: 152 x 229 mm
Editura: Elsevier
Seria The Clinics: Orthopedics


Cuprins

Newborn Screening: Advances, Challenges, and Future Directions
Newborn Screening for Hemoglobin Disorders
Cystic Fibrosis Newborn Screening
Newborn Screening of the Endocrine System: Best Practices for Evaluation of Hypothyroidism and Congenital Adrenal Hyperplasia
Early Hearing Detection
The Case for Universal Newborn Congenital Cytomegalovirus Screening
Newborn Pulse-Oximetry Screening
Prenatal Genetic Diagnosis: A Guide to Screening and Diagnostic Testing Options
Genetic Testing in the Neonate
Genetics of Congenital Heart Disease
The Emerging Role of Genome Sequencing in Newborn Screening