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PubMed
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GeneReviews
View MMBID Chapter Archive
Part 8: AMINO ACIDS
77:
Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency
,
Charles R. Scriver / Harvey Levy / John Donlon
[
Abstract
] [Full Text]
Revised—April 2008
77S1:
Homeostasis, Complexity, and Monogenic Phenotypes: The View from Phenylketonuria
,
Charles R. Scriver
[
Abstract
] [Full Text]
77S2:
Structural Studies of Phenylalanine Hydroxylase Enzyme
,
Heidi Erlandsen / Raymond C. Stevens
[
Abstract
] [Full Text]
77S3:
The Population Genetics of PAH
,
Judith R. Kidd / Kenneth K. Kidd
[
Abstract
] [Full Text]
78:
Disorders of Tetrahydrobiopterin and Related Biogenic Amines
,
Keith Hyland / Richard G. H. Cotton / Beat Thöny / Nenad Blau
[
Abstract
] [Full Text]
79:
Hypertyrosinemia
,
Robert M. Tanguay / Marie Lambert / Markus Grompe / Grant A. Mitchell
[
Abstract
] [Full Text]
80:
Disorders of Histidine Metabolism
,
Harvey L. Levy / Robin G. Taylor / Roderick R. McInnes
[
Abstract
] [Full Text]
81:
Disorders of Proline and Hydroxyproline Metabolism
,
James M. Phang / Chien-an A. Hu / David Valle
[
Abstract
] [Full Text]
82:
Prolidase Deficiency
,
Peter Hechtman
[
Abstract
] [Full Text]
83:
The Hyperornithinemias
,
David Valle / Olli Simell
[
Abstract
] [Full Text]
84:
Guanidinoacetate Methyltransferase Deficiency
,
Kurt von Figura / Folker Hanefeld / Dirk Isbrandt / Sylvia Stöckler-Ipsiroglu
[
Abstract
] [Full Text]
85:
Urea Cycle Enzymes
,
Saul W. Brusilow / Arthur L. Horwich
[
Abstract
] [Full Text]
85S:
Glutaminase and Glutamine Synthetase: Biochemistry, Pharmacology and Mendelian Disorder
,
Ina Knerr / K. Michael Gibson / Hans G. Koch / Johannes Häberle
[
Abstract
] [Full Text]
86:
Errors of Lysine Metabolism
,
Rody P. Cox
[
Abstract
] [Full Text]
86S:
Further Characterization of the Lysine Catabolic Pathway
,
Michael T. Geraghty
[
Abstract
] [Full Text]
86.1:
Pyridoxine-Dependent Epilepsy Due to α-Aminoadipic Semialdehyde Dehydrogenase (Antiquitin) Deficiency
,
Peter T. Clayton
[
Abstract
] [Full Text]
87:
Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)
,
David T. Chuang / R. Max Wynn / Vivian E. Shih
[
Abstract
] [Full Text]
Revised—November 2008
88:
Disorders of Transsulfuration
,
S. Harvey Mudd / Harvey L. Levy / Jan P. Kraus
[
Abstract
] [Full Text]
88.1:
Trimethylaminuria and Deficiency of Flavin-Containing Monooxygenase Type 3 (FMO3)
,
Eileen P. Treacy
[
Abstract
] [Full Text]
New—April 2007
89:
Sarcosinemia
,
C. Ronald Scott
[
Abstract
] [Full Text]
90:
Nonketotic Hyperglycinemia
,
Ada Hamosh / Michael V. Johnston
[
Abstract
] [Full Text]
90.1:
Serine deficiency disorders
,
T.J. de Koning
[
Abstract
] [Full Text]
Revised—September 2010
91:
Disorders of β- and γ-Amino Acids in Free and Peptide-Linked Forms
,
Phillip L. Pearl / Cornelis Jakobs / K. Michael Gibson
[
Abstract
] [Full Text]
Revised—March 2007