Genetics, Newborn Screening, and Inborn Errors of Metabolism, An Issue of Clinics in Perinatology, 1st Edition
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.
ISBNコード :
9780443343216
出版日 :
27-08-2025
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.
特長
- 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 more
- Provides in-depth clinical reviews of genetics, newborn screening, and inborn errors of metabolism, offering actionable insights for clinical practice
- Presents 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
著者情報
Edited by Patrick K. Gallagher, Departments of Chemistry and Materials Science and Engineering, Columbus, Ohio, USA and Alex R. Kemper, MD, Division Chief of Primary Care Pediatrics Nationwide Childrens Hospital Professor of Pediatrics the Ohio State University College of Medicine Columbus, OH, USA
| ISBN Number | 9780443343216 |
|---|---|
| Description Author List | Edited by Patrick K. Gallagher, Departments of Chemistry and Materials Science and Engineering, Columbus, Ohio, USA and Alex R. Kemper, MD, Division Chief of Primary Care Pediatrics Nationwide Childrens Hospital Professor of Pediatrics the Ohio State University College of Medicine Columbus, OH, USA |
| Copyright Year | 2025 |
| Edition Number | 1 |
| Format | E-Book |
| Imprint | Elsevier |
| Page Count | 240 |
| Publication Date | 27 Aug 2025 |
| Stock Status | IN STOCK |
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
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
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