Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland-Reference-Cited by-同舟云学术

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland

Published:2020-12-20 Issue:3 Volume:44 Page:639-655
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

O'Reilly Daniel¹,Crushell Ellen¹,Hughes Joanne¹,Ryan Stephanie²,Rogers Yvonne¹,Borovickova Ingrid³⁴,Mayne Philip³⁴,Riordan Michael⁵,Awan Atif⁵,Carson Kevin⁶,Hunter Kim⁶,Lynch Bryan⁷,Shahwan Amre⁷,Rüfenacht Véronique⁸,Häberle Johannes⁸,Treacy Eileen P.⁹,Monavari Ahmad A.¹,Knerr Ina¹^ORCID

Affiliation:

1. National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street Dublin Ireland

2. Department of Paediatric Radiology Children's Health Ireland at Temple Street Dublin Ireland

3. Metabolic Laboratory Children's Health Ireland at Temple Street Dublin Ireland

4. National Newborn Screening Laboratory Children's Health Ireland at Temple Street Dublin Ireland

5. Department of Nephrology Children's Health Ireland at Temple Street Dublin Ireland

6. Paediatric Intensive Care Unit Children's Health Ireland at Temple Street Dublin Ireland

7. Department of Neurology Children's Health Ireland at Temple Street Dublin Ireland

8. Division of Metabolism and Children's Research Centre University Children's Hospital Zurich Switzerland

9. Adult Metabolic Services/National Centre for Inherited Metabolic Disorders Mater Misericordiae University Hospital Dublin Ireland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12337

Reference46 articles.

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2. The therapy of maple syrup urine disease;Snyderman SE;Am J Dis Child,1967

3. Lessons from Genetic Disorders of Branched-Chain Amino Acid Metabolism

4. Branched‐chain α‐ketoacid dehydrogenase deficiency (maple syrup urine disease): treatment, biomarkers, and outcomes;Strauss KA;Mol Genet Metab,2020

5. A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in thePPM1KGene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

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