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Inborn Errors of Metabolism : From Neonatal Screening to Metabolic Pathways

• Authors : Brendan Lee MD, PhD; Fernando Scaglia MD

Subjects: Metabolism, Inborn errors ofMEDICAL / Evidence-Based Medicine; HEALTH & FITNESS / Diseases & Conditions / General; MEDICAL / Clinical Medicine

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Odimet ® : A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic.

• Authors : Sánchez-Pintos, Paula^1,2,3,4,5 ; Camba-Garea, María José^1,2,3,4 ; López-Pardo, Beatriz Martin^1,4

Subjects: *PREVENTIVE medicine; *AMINO acid analysis; *COMPUTER software

• Source: Nutrients. Feb2024, Vol. 16 Issue 3, p423. 10p.

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Prevalence and outcome of inborn errors of metabolism among high-risk neonates: an Egyptian single-center study.

• Authors : Mokhtar, Wesam A.¹ (AUTHOR); Hesham, Mervat A.¹ (AUTHOR); Abdo, Shams S.² (AUTHOR)

• Source: Alexandria Journal of Pediatrics. Jan-Apr2024, Vol. 37 Issue 1, p21-28. 8p.

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A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.

• Authors : Couce, María L.^1,2 (AUTHOR) ; Bóveda, María-Dolores^1,2 (AUTHOR); Castiñeiras, Daisy E.^1,2 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/17/2024, Vol. 19 Issue 1, p1-11. 11p.

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Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

• Source: Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic DisordersGahl

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Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

• Source: Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolKuseyri O, Weissbach

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Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.

• Authors : Verma, Anisha¹ (AUTHOR); Lehman, April N.² (AUTHOR); Gokcan, Hatice³ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-15. 15p.

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The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

• Source: The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial

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Nutritional Management of Patients with Inborn Errors of Metabolism.

• Authors : Couce, María-Luz^1,2,3,4,5 ; Vitoria, Isidro⁶

Subjects: *BREASTFEEDING; *FRUIT; *INBORN errors of metabolism

• Source: Nutrients. Dec2024, Vol. 16 Issue 23, p4154. 4p.

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Clinical characteristics of pediatric patients with inborn errors of metabolism admitted to Nemazi hospital, a tertiary referral center in Shiraz, southern Iran

• Authors : Homa Ilkhanipoor; Naser Honar; Elham Razavi

Subjects: inborn errors of metabolism; children; pediatric

• Source: Journal of Kerman University of Medical Sciences, Vol 30, Iss 6, Pp 349-353 (2024)

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