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Genetics, Newborn Screening, and Inborn Errors of Metabolism, An Issue of Clinics in Perinatology

Specificaties
Gebonden, blz. | Engels
Elsevier Health Sciences | e druk, 2025
ISBN13: 9780443343209
Rubricering
Elsevier Health Sciences e druk, 2025 9780443343209
Onderdeel van serie The Clinics: Orthopedics
€ 115,99
Levertijd ongeveer 8 werkdagen

Samenvatting

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.Contains 14 practice-oriented topics, including approach to the neonate with suspected inborn error of metabolism; prenatal genetic diagnosis; the future of clinical genomics; genetic testing in the neonate; genetics of congenital heart disease; and moreProvides in-depth clinical reviews of genetics, newborn screening, and inborn errors of metabolism, offering actionable insights for clinical practicePresents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create clinically significant, topic-based reviews

Specificaties

ISBN13:9780443343209
Taal:Engels
Bindwijze:Gebonden

Inhoudsopgave

Newborn Screening: Advances, Challenges, and Future Directions<br>Newborn Screening for Hemoglobin Disorders<br>Cystic Fibrosis Newborn Screening<br>Newborn Screening of the Endocrine System: Best Practices for Evaluation of Hypothyroidism and Congenital Adrenal Hyperplasia<br>Early Hearing Detection<br>The Case for Universal Newborn Congenital Cytomegalovirus Screening<br>Newborn Pulse-Oximetry Screening<br>Prenatal Genetic Diagnosis: A Guide to Screening and Diagnostic Testing Options<br>Genetic Testing in the Neonate<br>Genetics of Congenital Heart Disease<br>The Emerging Role of Genome Sequencing in Newborn Screening
€ 115,99
Levertijd ongeveer 8 werkdagen

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        Genetics, Newborn Screening, and Inborn Errors of Metabolism, An Issue of Clinics in Perinatology