Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency-Reference-Cited by-同舟云学术

Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency

Published:2019-08 Issue:5 Volume:42 Page:809-817
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Knerr Ina¹^ORCID,Colombo Roberto²³⁴,Urquhart Jill⁵,Morais Ana⁶,Merinero Begona⁶,Oyarzabal Alfonso⁶,Pérez Belén⁶,Jones Simon A.⁵⁷,Perveen Rahat⁷,Preece Mary A.⁸,Rogers Yvonne¹,Treacy Eileen P.¹⁹,Mayne Philip¹⁰,Zampino Giuseppe¹¹,MacKinnon Sabrina¹²,Wassmer Evangeline⁸,Yue Wyatt W.¹²,Robinson Ian¹³,Rodríguez‐Pombo Pilar⁶,Olpin Simon E.¹⁴,Banka Siddharth⁵⁷

Affiliation:

1. National Centre for Inherited Metabolic DisordersTemple Street Children's University Hospital Dublin Ireland

2. Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University of the Sacred Heart Rome Italy

3. Policlinico Agostino Gemelli Rome Italy

4. Center for the Study of Rare Hereditary DiseasesNiguarda Ca' Granda Metropolitan Hospital Milan Italy

5. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation TrustHealth Innovation Manchester Manchester UK

6. Centro de Diagnostico de Enfermedades Moleculares, Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Centro de Investigacion Biomedica en Red de Enfermedades RarasUniversidad Autonoma de Madrid Spain

7. Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and HealthUniversity of Manchester Manchester UK

8. Children's HospitalBirmingham Women's and Children's NHS Foundation Trust Birmingham UK

9. Adult Metabolic ServiceMater Misericordiae University Hospital Dublin Ireland

10. Department of BiochemistryTemple Street Children's University Hospital Dublin Ireland

11. Department of Paediatrics, Catholic University of the Sacred Heart, and Center for Rare DiseasesPoliclinico Agostino Gemelli Rome Italy

12. Structural Genomics Consortium, Nuffield Department of MedicineUniversity of Oxford Oxford UK

13. Department of RadiologyTemple Street Children's University Hospital Dublin Ireland

14. Department of Clinical Chemistry, Sheffield Children's NHS Foundation TrustSheffield Children's Hospital Sheffield UK

Funder

European Regional Development Fund

Ministerio de Economía y Competitividad

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12135

Reference25 articles.

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2. Branched-Chain Amino Acids: Enzyme and Substrate Regulation

3. Distribution of the branched chain aminotransferase proteins in the human brain and their role in glutamate regulation

4. Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene

5. Structure, function and an inherited defect of 2-oxo acid dehydrogenase multienzyme complexes

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