Outcome of Inherited Metabolic Disorders Presenting in the Neonatal Period
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-020-03522-6.pdf
Reference26 articles.
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2. Saudubray JM, Nassogne MC, de Lonlay P, Touati G. Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol. 2002;7:3–15.
3. Saudubray J-M, Sedel F, Walter JH. Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis. 2006;29:261–74.
4. Saudubray J-M, Garcia-Cazorla À. Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management. Pediatr Clin N Am. 2018;65:179–208.
5. Kapoor S, Thelma BK. Status of newborn screening and inborn errors of metabolism in India. Indian J Pediatr. 2018;85:1110–7.
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1. IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders;Journal of Pediatric Endocrinology and Metabolism;2023-10-05
2. Inborn Errors of Metabolism—Approach to Diagnosis and Management in Neonates;Indian Journal of Pediatrics;2021-06-07
3. Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend;Indian Journal of Pediatrics;2021-03-26
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