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| OMMBID > View All Updates |
| April 2013 |
| PART 21: MEMBRANE TRANSPORT DISORDERS |
|
Chapter 200S: Recent Developments in Disorders of Free Sialic Acid Storage Pertti Aula / Nina Aula / William A. Gahl |
| February 2013 |
| PART 16: LYSOSOMAL DISORDERS |
|
Chapter 138: I-Cell Disease and Pseudo-Hurler Polydystrophy: Disorders of Lysosomal Enzyme Phosphorylation and Localization Thomas Braulke / Annick Raas-Rothschild / Stuart Kornfeld |
| February 2013 |
| This is the first of a new 20-chapter section on mitochondrial disorders which is forthcoming. |
|
Chapter 257: Complex III Deficiencies Paule Bénit / Manuel Schiff / Pierre Rustin |
| January 2013 |
| PART 11: PURINES AND PYRIMIDINES |
|
Chapter 106: Hyperuricemia and Gout Nicola Dalbeth / Tony Merriman |
| December 2012 |
| PART 4: CANCER |
|
Chapter 41.1: The Birt-Hogg-Dubé Syndrome Laura S. Schmidt |
| December 2012 |
| PART 28: NEUROGENETICS |
|
Chapter 229.1: Aminoacylase I Deficiency Rudy Van Coster |
| October 2012 |
| PART 28: NEUROGENETICS |
|
Chapter 235.2: The Role of Genetics in Multiple Sclerosis Britt A. Johnson / Jorge R. Oksenberg |
| November 2012 |
| PART 31: NEUROGENETICS |
|
Chapter 256: The Role of Genetics in Multiple Sclerosis Britt A. Johnson / Jorge R. Oksenberg |
| August 2012 |
| PART 7: CARBOHYDRATES |
|
Chapter 73S: Ribose-5-Phosphate Isomerase Deficiency and Transaldolase Deficiency Cornelis Jakobs / Britt A. Johnson / Mirjam M.C. Wamelink |
| September 2012 |
| PART 9: ORGANIC ACIDS |
|
Chapter 93: Branched Chain Organic Acidurias Jerry Vockley / Johannes Zschocke / Ina Knerr / Catherine Walsh Vockley / K.Michael Gibson |
| March2012 |
| PART 16: LYSOSOMAL DISORDERS |
|
Chapter 142: Lysosomal Acid Lipase Deficiencies: The Wolman Disease/Cholesteryl Ester Storage Disease Spectrum Gregory A. Grabowski / Lawrence Charnas / Hong Du |
| February 2012 |
| PART 4: CANCER |
|
Chapter 58: Lung Cancer Barry D. Nelkin / Stephen B. Baylin |
| November 2011 |
| PART 10: DISORDERS OF MITOCHONDRIAL FUNCTION |
|
Chapter 101.1: Plasma Membrane Carnitine Transporter Defect Charles A. Stanley / Michael J. Bennett / Nicola Longo |
| August 2011 |
| PART 17: VITAMINS |
|
Chapter 155: Inherited Disorders of Folate and Cobalamin Transport and Metabolism David Watkins / David S. Rosenblatt |
| June 2011 |
| PART 17: VITAMINS |
|
Chapter 156.1: Vitamin B6 Metabolism and Inborn Errors Philippa B Mills / Emma J Footitt / Peter T Clayton |
| February 2011 |
| PART 2: PERSPECTIVES |
|
Chapter 5.1: The Adult Patient with Hereditary Metabolic Disease Robin H. Lachmann / Elaine M. Murphy |
| November 2010 |
| PART 21: MEMBRANE TRANSPORT DISORDERS |
|
Chapter 194: Iminoglycinuria Stefan Bröer / Russell W. Chesney |
| October 2010 |
| PART 16: LYSOSOMAL DISORDERS |
|
Chapter 154.1: Autophagy and Human Genetic Disease Benjamin R Underwood / Dunecan C O Massey / David C Rubinsztein |
| September 2010 |
| PART 27: SKIN |
|
Chapter 222.1: Genetics of Psoriasis Elisha D.O. Roberson / Anne M. Bowcock |
| September 2010 |
| PART 8: AMINO ACIDS |
|
Chapter 90.1: Serine deficiency disorders T.J. de Koning |
| August 2010 |
| PART 19: BLOOD |
|
Chapter 175: Factor XI and the Plasma Contact System David Gailani / Thomas Renné / Jonas Emsley |
| July 2010 |
| PART 16: LYSOSOMAL DISORDERS |
|
Chapter 146: Gaucher Disease Gregory A. Grabowski / Gregory A. Petsko / Edwin H. Kolodny |
| June 2010 |
| PART 28: NEUROGENETICS |
|
Chapter 235.1: Vanishing White Matter Marjo S. van der Knaap / Marianna Bugiani / Ilja Boor / Chris G. Proud / Gert C. Scheper |
| May 2010 |
| PART 28: NEUROGENETICS |
|
Chapter 228.1: Hereditary Spastic Paraplegias Evan Reid / Elena I. Rugarli |
| April 2010 |
| PART 1: INTRODUCTION |
|
Chapter 1.3: The Human Gene Mutation Database (HGMD) David N. Cooper / Peter D. Stenson |
| March 2010 |
| PART 11: PURINES AND PYRIMIDINES |
|
Chapter 110: Myoadenylate Deaminase Deficiency Barbara Norman / Richard L. Sabina |
| January 2010 |
| PART 2: PERSPECTIVES |
|
Chapter 5.2: Gene Therapy of Human Inherited Diseases Nicola Brunetti-Pierri / Alberto Auricchio |
| October 2009 |
| PART 20: IMMUNE AND DEFENSE SYSTEMS |
|
Chapter 189: Inherited Disorders of Oxidative Phagocyte Killing Mary C. Dinauer / William M. Nauseef / Peter E. Newburger |
| June 2009 |
| PART 16: LYSOSOMAL DISORDERS |
|
Chapter 143: Acid Ceramidase Deficiency: Farber Lipogranulomatosis Thierry Levade / Konrad Sandhoff / Heike Schulze / Jeffrey A. Medin |
| May 2009 |
| PART 20: IMMUNE AND DEFENSE SYSTEMS |
|
Chapter 184: Antibody Deficiencies Mary Ellen Conley |
| March 2009 |
| PART 7: CARBOHYDRATES |
|
Chapter 71: Glycogen Storage Diseases Priya S. Kishnani / Dwight Koeberl / Yuan-Tsong Chen |
| February 2009 |
| PART 12: LIPIDS |
|
Chapter 117S: Association of Variants in the Lipase Genes with Lipid Levels and Coronary Artery Disease Samir S. Deeb / John D. Brunzell |
| January 2009 |
| PART 19: BLOOD |
|
Chapter 176S: Antithrombin Deficiency Douglas M. Tollefsen |
| December 2008 |
| PART 21: MEMBRANE TRANSPORT DISORDERS |
|
Chapter 197: Mendelian Hypophosphatemias Alberto Auricchio / Yves Sabbagh / Harriet S. Tenenhouse / Michael J. Econs |
| November 2008 |
| PART 8: AMINO ACIDS |
|
Chapter 87: Maple Syrup Urine Disease (Branched-Chain Ketoaciduria) David T. Chuang / R. Max Wynn / Vivian E. Shih |
| July 2008 |
| PART 16: LYSOSOMAL DISORDERS |
|
Chapter 151: β-Galactosidase Deficiency (β-Galactosidosis): GM1 Gangliosidosis and Morquio B Disease Yoshiyuki Suzuki / Eiji Nanba / Junichiro Matsuda / Katsumi Higaki / Akihiro Oshima |
| June 2008 |
| PART 4: CANCER |
|
Chapter 59.2: The Classic Myeloproliferative Neoplasms: Chronic Myelogenous Leukemia, Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis Ayalew Tefferi |
| May 2008 |
| PART 4: CANCER |
|
Chapter 59.1: Genetic Abnormalities in Lymphoid Malignancies Robert G. Fenton / Dan L. Longo |
| April 2008 |
| PART 8: AMINO ACIDS |
|
Chapter 77: Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency Charles R. Scriver / Harvey Levy / John Donlon |
| February 2008 |
| PART 7: CARBOHYDRATES |
|
Chapter 72: Galactosemia William A. Gahl / John H. Walter |
| January 2008 |
| PART 21: MEMBRANE TRANSPORT DISORDERS |
|
Chapter 198S: Hereditary Renal Hypouricemia: Identification of the Gene Defect in Hereditary Renal Hypouricemia Oded Sperling |
| December 2007 |
| PART 2: PERSPECTIVES |
|
Chapter 5: Treatment of Genetic Disease Eileen P. Treacy |
| November 2007 |
| PART 9: ORGANIC ACIDS |
|
Chapter 92: Alkaptonuria Michael A. Kayser / Wendy Introne / William A. Gahl |
| August 2007 |
| PART 20: IMMUNE AND DEFENSE SYSTEMS |
|
Chapter 187: Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome Björn A. Afzelius / Pertti Aula / Sten Erik Bergström |
| June 2007 |
| PART 7: CARBOHYDRATES |
|
Chapter 76: Genetic Polymorphism of Intestinal Lactase Activity in Adult Humans Dallas M. Swallow / Edward J. Hollox |
| May 2007 |
| PART 8: AMINO ACIDS |
|
Chapter 77: Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency Charles R. Scriver / Harvey Levy / John Donlon |
| April 2007 |
| PART 8: AMINO ACIDS |
|
Chapter 88.1: Trimethylaminuria and Deficiency of Flavin-Containing Monooxygenase Type 3 (FMO3) Eileen P. Treacy |
| March 2007 |
| PART 8: AMINO ACIDS |
|
Chapter 91: Disorders of β- and γ-Amino Acids in Free and Peptide-Linked Forms Phillip L. Pearl / Cornelis Jakobs / K. Michael Gibson |
| January 2007 |
| PART 4: CANCER |
|
Chapter 44: Malignant Melanoma Steven Kazianis / Meenhard Herlyn |
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Privacy Notice. Any use is subject to the Terms of Use and Notice. Additional Credits and Copyright Information.
