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`Copyright
`
`The Online Metabolic and
`
`Molecular Bases of Inherited
`
`Disease
`
`David Valle, MD, Editor-in-Chief, Arthur L. Beaudet,
`MD, Editor, Bert Vogelstein, MD, Editor, Kenneth W.
`Kinzler, Ph.D., Editor, Stylianos E. Antonarakis, MD,
`D.Sc., Editor, Andrea Ballabio, MD, Editor, K.
`Michael Gibson, Ph.D., FACMG, Editor, Grant
`Mitchell, MD, Editor
`
`Show Chapters Hide Chapters
`
`Part 1: Introduction
`
`Part 2: Perspectives
`
`Part 3: General Themes
`
`Part 4: Cancer
`
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`Horizon Exhibit 2044
`Par v. Horizon
`IPR2017-01769
`
`
`
`The Online Metabolic and Molecular Bases of Inherited Disease | OM...
`
`http://ommbid.mhmedical.com/book.aspx?bookid=971
`
`Part 5: Chromosomes
`
`Part 6: Diagnostic Approaches
`
`Part 7: Carbohydrates
`
`Part 8: Amino Acids
`
`77: Hyperphenylalaninemia:
`Phenylalanine Hydroxylase Deficiency
`
`77S1: Homeostasis, Complexity, and
`Monogenic Phenotypes: The View from
`Phenylketonuria
`
`77S2: Structural Studies of
`Phenylalanine Hydroxylase Enzyme
`
`77S3: The Population Genetics of PAH
`
`78: Disorders of Tetrahydrobiopterin and
`Related Biogenic Amines
`
`79: Hypertyrosinemia
`
`80: Disorders of Histidine Metabolism
`
`81: Disorders of Proline and
`Hydroxyproline Metabolism
`
`82: Prolidase Deficiency
`
`83: The Hyperornithinemias
`
`84: Guanidinoacetate Methyltransferase
`Deficiency
`
`85: Urea Cycle Enzymes
`
`85S: Glutaminase and Glutamine
`Synthetase: Biochemistry,
`Pharmacology and Mendelian Disorder
`
`86: Errors of Lysine Metabolism
`
`86.1: Pyridoxine-Dependent Epilepsy
`Due to α-Aminoadipic Semialdehyde
`Dehydrogenase (Antiquitin) Deficiency
`
`86S: Further Characterization of the
`Lysine Catabolic Pathway
`
`87: Maple Syrup Urine Disease
`(Branched-Chain Ketoaciduria)
`
`88: Disorders of Transsulfuration
`
`88.1: Trimethylaminuria and Deficiency
`
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`The Online Metabolic and Molecular Bases of Inherited Disease | OM...
`
`http://ommbid.mhmedical.com/book.aspx?bookid=971
`
`of Flavin-Containing Monooxygenase
`Type 3 (FMO3)
`
`89: Sarcosinemia
`
`90: Nonketotic Hyperglycinemia
`
`90.1: Serine deficiency disorders
`
`91: Acknowledgments: Disorders of β-
`and γ-Amino Acids in Free and Peptide-
`Linked Forms
`The authors have drawn substantively
`from the earlier version of this chapter
`(MMBID 7th Edition, Vol 1, Chapter 38,
`pp. 1349–1368) and gratefully
`acknowledge the significant contribution
`of the preceding primary author, Dr.
`Charles R. Scriver.
`
`Part 9: Organic Acids
`
`Part 10: Disorders of Mitochondrial
`Function
`
`Part 11: Purines and Pyrimidines
`
`Part 12: Lipids
`
`Part 13: Porphyrins
`
`Part 14: Metals
`
`Part 15: Peroxisomes
`
`Lysosomal Disorders
`
`Part 17: Vitamins
`
`Part 18: Hormones
`
`Part 19: Blood
`
`Part 20: Immune and Defense
`Systems
`
`Membrane Transport Disorders
`
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`The Online Metabolic and Molecular Bases of Inherited Disease | OM...
`
`http://ommbid.mhmedical.com/book.aspx?bookid=971
`
`Part 22: Connective Tissue
`
`Part 23: Cardiovascular System
`
`Part 24: Kidney
`
`Part 25: Muscle
`
`Part 26: Lung
`
`Part 27: Skin
`
`Part 28: Neurogenetics
`
`Part 29: Eye
`
`Part 30: Multisystem Inborn Errors
`of Development
`
`Part 31: The Genetics of Complex
`Disease
`
`Copyright © McGraw-Hill Global
`Education Holdings, LLC.
`All rights reserved.
`Your IP address is 65.207.2.2
`
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