Contribution of Brain Intrinsic Branched-Chain Amino Acid Metabolism in a Novel Mouse Model of Maple Syrup Urine Disease.

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Title: Contribution of Brain Intrinsic Branched-Chain Amino Acid Metabolism in a Novel Mouse Model of Maple Syrup Urine Disease.
Authors: Kuhs AC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ohl L; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Thurston T; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Singh J; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bhuyan S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Grandinette S; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Xu J; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Siemsgluess SA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Jakher Y; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Mar; Vol. 48 (2), pp. e70003.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1573-2665
DOI:10.1002/jimd.70003