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JIMD Reports, Volume 45 | SpringerLink
Description:
This contributed volume presents case and short research reports in the area of inherited metabolic disorders. It highlights some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
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Keywords {đ}
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Topics {âïž}
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- Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?
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Biomedical and Life Sciences
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name:Springer Berlin Heidelberg
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editor:
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name:Matthias Baumgartner
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name:Division of Metabolism & Childrenâs Research Centre, University Childrenâs Hospital ZĂŒrich, ZĂŒrich, Switzerland
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name:Marc Patterson
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name:Verena Peters
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name:Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany
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keywords:inherited metabolic diseases, pediatrics, medical genetics, Mendelian disorder, endocrinology, metabolic disease
description:This contributed volume presents case and short research reports in the area of inherited metabolic disorders. It highlights some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
copyrightYear:2019
name:JIMD Reports, Volume 45
numberOfPages:6
isbn:978-3-662-58647-1
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