• 1:

  Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes, Arthur L. Beaudet / Charles R. Scriver / David Valle / William S. Sly [Abstract] [Full Text]
• 1.2:

  Mutation Databases: Overview and Catalogues, Charles R. Scriver / Rania Horaitis / Richard G.H. Cotton [Abstract] [Full Text]
• 1.3:

  The Human Gene Mutation Database (HGMD), David N. Cooper / Peter D. Stenson [Abstract] [Full Text] Revised—April 2010

               

• 2:

  A Logic of Disease, Barton Childs [Abstract] [Full Text]
• 2.1:

  Genetic: One Word, Several Meanings, Kenneth M. Weiss [Abstract] [Full Text]
• 3:

  The Inborn Error and Biochemical Individuality, Barton Childs / David Valle / Gerardo Jimenez-Sanchez [Abstract] [Full Text]
• 3.1:

  Metabolism and Metabolic Disease Resources on the Web, David S. Wishart [Abstract] [Full Text]
• 4:

  The Effect of Mendelian Disease on Human Health, Barton Childs / David Valle / Gerardo Jimenez-Sanchez [Abstract] [Full Text]
• 5:

  Treatment of Genetic Disease, Gerardo Jimenez-Sanchez / Barton Childs / David Valle [Abstract] [Full Text] Updated—December 2007
• 5.1:

  The Adult Patient with Hereditary Metabolic Disease, Robin H. Lachmann / Elaine M. Murphy [Abstract] [Full Text]  
  Updated—February 2011
• 5.2:

  Gene Therapy of Human Inherited Diseases, N Brunetti-Pierri and / A Auricchio [Abstract][Full Text]  
  New—January 2010
• 7:

  Genes and Susceptibility to Infectious Diseases, Adrian V.S. Hill [Abstract] [Full Text]
• 8:

  Genetics and Aging, George M. Martin [Abstract] [Full Text]
• 9:

  Pharmacogenetics, Denis M. Grant / Werner Kalow [Abstract] [Full Text]

                                                        

• 10:

  The Human Genome Project and Its Impact on the Study of Human Disease, Eric D. Green [Abstract] [Full Text]
• 11:

  Population Genetics, Walter F. Bodmer [Abstract] [Full Text]
• 12:

  The Role of Human Major Histocompatibility Complex (HLA) Genes in Disease, Hugh O. McDevitt / Lars Fugger / Peter van Endert / Roland Libau / Roland Tisch [Abstract] [Full Text]
• 13:

  The Nature and Mechanisms of Human Gene Mutation, David N. Cooper / Michael Krawczak / Stylianos E. Antonarakis [Abstract] [Full Text]
• 13.1:

  Protein Folding and Misfolding: The Role of Cellular Protein Quality Control Systems in Inherited Disorders, Malene Munk Jørgensen / Niels Gregersen / Peter Bross [Abstract] [Full Text]
• 14:

  Mouse Models of Human Genetic Disorders, William J. Craigen [Abstract] [Full Text]
• 15:

  Genome Imprinting in Human Disease, Carmen Sapienza / Judith G. Hall [Abstract] [Full Text]
• 16:

  The Biogenesis of Membranes and Organelles, David D. Sabatini / Milton B. Adesnik [Abstract] [Full Text]

                                             

• 17:

  Introduction to Cancer Genetics Chapters, Bert Vogelstein / Kenneth W. Kinzler [Abstract] [Full Text]

     

• 18:

  Genomic Imprinting and Cancer, Andrew P. Feinberg [Abstract] [Full Text]
• 18.1:

  DNA Methylation and Epigenetic Silencing of Genes in Cancer, James G. Herman / Stephen B. Baylin [Abstract] [Full Text]
• 19:

  Genes Altered by Chromosomal Translocations in Leukemias and Lymphomas, A. Thomas Look [Abstract] [Full Text]
• 20:

  Chromosome Alterations in Human Solid Tumors, Anne Kallioniemi / Jeffrey M. Trent / Paul S. Meltzer [Abstract] [Full Text]
• 21:

  Gene Amplification in Human Cancers: Biological and Clinical Significance, Garrett M. Brodeur / Michael D. Hogarty [Abstract] [Full Text]
• 22:

  Tumor Genome Instability, Christoph Lengauer / Daniel P. Cahill [Abstract] [Full Text]

• 23:

  Cell Cycle Control: An Overview, Bruce E. Clurman / James M. Roberts [Abstract] [Full Text]
• 24:

  Apoptosis and Cancer, Charles M. Rudin / Craig B. Thompson [Abstract] [Full Text]
• 25:

  Oncogenes, Morag Park [Abstract] [Full Text]
• 26:

  Tumor-Suppressor Genes, Eric R. Fearon [Abstract] [Full Text]

• 27:

  Familial Cancer Syndromes: The Role of Caretakers and Gatekeepers, Bert Vogelstein / Kenneth W. Kinzler [Abstract] [Full Text]

• 28:

  Nucleotide Excision Repair Syndromes: Xeroderma Pigmentosum, Cockayne Syndrome, and Trichothiodystrophy , Dirk Bootsma / James E. Cleaver / Jan H. J. Hoeijmakers / Kenneth H. Kraemer [Abstract] [Full Text]
• 29:

  Ataxia-Telangiectasia, Richard A. Gatti [Abstract] [Full Text]
• 30:

  Bloom Syndrome, James German / Nathan A. Ellis [Abstract] [Full Text]
• 31:

  Fanconi Anemia, Arleen D. Auerbach / Hans Joenje / Manuel Buchwald [Abstract] [Full Text]
• 32:

  Hereditary Nonpolyposis Colorectal Cancer (HNPCC), C. Richard Boland [Abstract] [Full Text]
• 33:

  Werner Syndrome, Chang-En Yu / Gerard D. Schellenberg / Jun Nakura / Tetsuro Miki [Abstract] [Full Text]
• 34:

  Peutz-Jeghers Syndrome, Lauri A. Aaltonen [Abstract] [Full Text]
• 35:

  Juvenile Polyposis Syndrome, James R. Howe [Abstract] [Full Text]

• 36:

  Retinoblastoma, Irene F. Newsham / Theodora Hadjistilianou / Webster K. Cavenee [Abstract] [Full Text]
• 37:

  Li-Fraumeni Syndrome, David Malkin [Abstract] [Full Text]
• 38:

  Wilms Tumor, Daniel A. Haber [Abstract] [Full Text]
• 39:

  Neurofibromatosis 1, David H. Gutmann / Francis S. Collins [Abstract] [Full Text]
• 40:

  Neurofibromatosis 2, James Gusella / Mia MacCollin [Abstract] [Full Text]
• 40.1:

  Hereditary Paragangliomas of the Head and Neck, Andel G.L. van der Mey / Cees J. Cornelisse / Peter Devilee [Abstract] [Full Text]
• 41:

  Renal Carcinoma, Berton Zbar / D. Richard Klausner / W. Marston Linehan [Abstract] [Full Text]
• 41S:

  Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), Virpi  Launonen / Maija  Kiuru / Riitta  Herva / Lauri A.  Aaltonen [Abstract] [Full Text]
• 41.1:

  The Birt-Hogg-Dubé Syndrome,  Laura S. Schmidt [Abstract] [Full Text]
• 42:

  Multiple Endocrine Neoplasia Type 2, B. A. J. Ponder [Abstract] [Full Text]
• 43:

  Multiple Endocrine Neoplasia Type 1, Stephen J. Marx [Abstract] [Full Text]
• 44:

  Malignant Melanoma, Meenhard Herlyn / Steven Kazianis [Abstract] [Full Text] Updated—January 2007
• 45:

  Cowden Syndrome, Charis Eng / Ramon Parsons [Abstract] [Full Text]
• 46:

  Skin Cancer (Including Nevoid Basal Cell Carcinoma Syndrome), Jonathan L. Rees [Abstract] [Full Text]
• 46.1:

  Familial Cylindromatosis, Graham R. Bignell / Michael R. Stratton [Abstract] [Full Text]
• 47:

  Breast Cancer, Barbara L. Weber / Fergus J. Couch [Abstract] [Full Text]
• 47.1:

  Familial Cardiac Myxomas and Carney Complex, Carl J. Vaughan / Craig T. Basson / Mark Veugelers [Abstract] [Full Text]
• 48:

  Colorectal Tumors, Bert Vogelstein / Fred Bunz / Kenneth W. Kinzler [Abstract] [Full Text]

• 49:

  Genetic Testing for Familial Cancer, Ann-Marie Codori / Gloria M. Petersen [Abstract] [Full Text]

• 50:

  Pancreatic Cancer, Charles J. Yeo / Ralph H. Hruban / Scott E. Kern [Abstract] [Full Text]
• 51:

  Ovarian Cancer, Louis Dubeau [Abstract] [Full Text]
• 52:

  Endometrial Cancer, Lora Hedrick Ellenson [Abstract] [Full Text]
• 53:

  Cervical Cancer, Kathleen R. Cho [Abstract] [Full Text]
• 54:

  Bladder Cancer, David Sidransky / Paul Cairns [Abstract] [Full Text]
• 55:

  Stomach Cancer, Steven M. Powell [Abstract] [Full Text]
• 56:

  Prostate Cancer, G. Steven Bova / William B. Isaacs [Abstract] [Full Text]
• 57:

  Brain Tumors, Ahmed Rasheed / Naji Al-dosari / Roger E. McLendon / Sandra H. Bigner [Abstract] [Full Text]
• 57.1:

  Cancers of the Oral Cavity and Pharynx, Saman Warnakulasuriya [Abstract] [Full Text]
• 58:

  Lung Cancer, Barry D. Nelkin / Mack Mabry / Stephen B. Baylin [Abstract] [Full Text] 
  Updated-February 2012
• 59:

  Hepatocellular Carcinoma, Curtis C. Harris / Lynne W. Elmore [Abstract] [Full Text]
• 59.1:

  Genetic Abnormalities in Lymphoid Malignancies, Dan L. Longo [Abstract] [Full Text] New—May 2008
• 59.2:

  The Classic Myeloproliferative Neoplasms: Chronic Myelogenous Leukemia, Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis, Ayalew Tefferi [Abstract] [Full Text] New—June 2008
• 60:

  Clinical and Biological Aspects of Neuroblastoma, Garrett M. Brodeur [Abstract] [Full Text]
• 60.1:

  Pilomatricoma and Pilomatrix Carcinoma, Edward F. Chan / Elaine Fuchs / Ramanuj Dasgupta / Uri Gat [Abstract] [Full Text]

        

• 61:

  The Sex Chromosomes and X Chromosome Inactivation, Huntington F. Willard [Abstract] [Full Text]
• 62:

  SRY and Primary Sex-Reversal Syndromes, Giovanna Camerino / J. Ross Hawkins / Malcolm A. Ferguson-Smith / Peter N. Goodfellow [Abstract] [Full Text]
• 63:

  Down Syndrome (Trisomy 21), Charles J. Epstein [Abstract] [Full Text]
• 64:

  The Fragile X Syndrome, Stephanie L. Sherman / Stephen T. Warren [Abstract] [Full Text]
• 65:

  Molecular Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance, David H. Ledbetter / James R. Lupski / Lisa G. Shaffer [Abstract] [Full Text]

                             

• 66:

  Clinical Phenotypes: Diagnosis/Algorithms, Christiane Charpentier / Jean-Marie Saudubray [Abstract] [Full Text]

      

• 67:

  ß-Cell Dysfunction in Type 2 Diabetes: Pathophysiological and Genetic Bases, Daniel Porte, Jr. / Steven E. Kahn [Abstract] [Full Text]
• 68:

  Insulin Action, Insulin Resistance, and Type 2 Diabetes Mellitus, Simeon I. Taylor [Abstract] [Full Text]
• 69:

  Type 1 Diabetes, Anjli Kukreja / Noel Keith Maclaren [Abstract] [Full Text]
• 70:

  Disorders of Fructose Metabolism, Beat Steinmann / Georges Van den Berghe / Richard Gitzelmann [Abstract] [Full Text]
• 71:

  Glycogen Storage Diseases, Yuan-Tsong Chen [Abstract] [Full Text]
• 72:

  Galactosemia, Judith L. Fridovich-Keil /  John H. Walter [Abstract] [Full Text] Revised—February 2008
• 73:

  Pentosuria, Howard H. Hiatt [Abstract] [Full Text]
• 73S:

  Ribose-5-Phosphate Isomerase Deficiency and Transaldolase Deficiency, Mirjam M. C.Wamelink / Vassili Valayannopoulos/ Cornelis Jakobs [Abstract] [Full Text] Updated—September 2012
• 74:

  Defects of N-Glycan Synthesis, Emile Van Schaftingen / Gert Matthijs / Hubert Carchon / Jaak Jaeken [Abstract] [Full Text]
• 75:

  Small-Intestinal Disaccharidases, Giorgio Semenza / Ned Mantei / Salvatore Auricchio [Abstract] [Full Text]
• 76:

  Genetic Polymorphism of Intestinal Lactase Activity in Adult Humans, Dallas M. Swallow / Edward J. Hollox [Abstract] [Full Text] Updated—June 2007

                                                              

• 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]

  
  

  77S3:

  The Population Genetics of PAH, Judith R. Kidd / Kenneth K. Kidd [Abstract] [Full Text]

  
  

  77S2:

  Structural Studies of Phenylalanine Hydroxylase Enzyme, Heidi Erlandsen / Raymond C. Stevens [Abstract] [Full Text]
• 78:

  Disorders of Tetrahydrobiopterin and Related Biogenic Amines, Beat Thöny / Keith Hyland / Nenad Blau / Richard G. H. Cotton [Abstract] [Full Text]
• 79:

  Hypertyrosinemia, Grant A. Mitchell / Marie Lambert / Markus Grompe / Robert M. Tanguay [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, Chien-an A. Hu / David Valle / James M. Phang [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, Dirk Isbrandt / Folker Hanefeld / Kurt von Figura / Sylvia Stöckler-Ipsiroglu [Abstract] [Full Text]
• 85:

  Urea Cycle Enzymes, Arthur L. Horwich / Saul W. Brusilow [Abstract] [Full Text]

  
  

  85S:

  Glutaminase and Glutamine Synthetase: Biochemistry, Pharmacology and Mendelian Disorder, Hans G. Koch / Ina Knerr / ä Häberle / K. Michael Gibson [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 a-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, Harvey L. Levy / Jan P. Kraus / S. Harvey Mudd [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 ß- and γ-Amino Acids in Free and Peptide-Linked Forms , Cornelis Jakobs / K. Michael Gibson / Phillip L. Pearl [Abstract] [Full Text] Revised—March 2007

                                                                                                      

• 92:

  Alkaptonuria, Bert N. La Du [Abstract] [Full Text] Updated—November 2007
• 93:

  Branched Chain Organic Acidurias, Jerry Vockley, Johannes Zschocke, Ina Knerr, Catherine Walsh Vockley, K. Michael Gibson [Abstract] [Full Text] 
  Revised—September 2012
• 94:

  Disorders of Propionate and Methylmalonate Metabolism, David S. Rosenblatt / Roy A. Gravel / Wayne A. Fenton [Abstract] [Full Text]
• 95:

  Organic Acidemias Due to Defects in Lysine Oxidation: 2-Ketoadipic Acidemia and Glutaric Acidemia, Frank E. Frerman / Stephen I. Goodman [Abstract] [Full Text]
• 96:

  Glutathione Synthetase Deficiency and Other Disorders of the γ-Glutamyl Cycle, Agne Larsson / Ellinor Ristoff / Mary E. Anderson [Abstract] [Full Text]
• 97:

  Disorders of Glycerol Metabolism, Edward R. B. McCabe [Abstract] [Full Text]
• 98:

  Sjögren-Larsson Syndrome: Fatty Aldehyde Dehydrogenase Deficiency, William B. Rizzo [Abstract] [Full Text]

                                      

• 99:

  è, Agnès Rötig / Arnold Munnich / Pierre Rustin / Valérie Cormier-Daire [Abstract] [Full Text]
• 100:

  Lactic Acidemia: Disorders of Pyruvate Carboxylase and Pyruvate Dehydrogenase, Brian H. Robinson [Abstract] [Full Text]
• 101:

  Mitochondrial Fatty Acid Oxidation Disorders, Charles R. Roe / Jiahuan Ding [Abstract] [Full Text]
• 101.1:

  Plasma Membrane Carnitine Transporter Defect, Charles A. Stanley / Michael J. Bennett / Nicola Longo [Abstract] [Full Text]  
  New—November 2011
• 102:

  Inborn Errors of Ketone Body Metabolism, Grant A. Mitchell / Toshiyuki Fukao [Abstract] [Full Text]
• 103:

  Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase: Glutaric Acidemia Type II, Frank E. Frerman / Stephen I. Goodman [Abstract] [Full Text]

                                        

• 106:

  Hyperuricemia and Gout, Nicola Dalbeth,Tony Merriman [Abstract] [Full Text]
• 107:

  Lesch-Nyhan Disease and Its Variants, H. A. Jinnah / Theodore Friedmann [Abstract] [Full Text]
• 108:

  Adenine Phosphoribosyltransferase Deficiency and 2,8-Dihydroxyadenine Lithiasis, Amrik S. Sahota / H. Anne Simmonds / Jay A. Tischfield / Naoyuki Kamatani [Abstract] [Full Text]
• 109:

  Immunodeficiency Diseases Caused by Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency, Beverly S. Mitchell / Michael S. Hershfield [Abstract] [Full Text]
• 110:

  Myoadenylate Deaminase Deficiency, Edward W. Holmes / Richard L. Sabina [Abstract] [Full Text]
• 111:

  Xanthine Oxidoreductase-Role in Human Pathophysiology and in Hereditary Xanthinuria, Kari O. Raivio / Mika Saksela / Risto Lapatto [Abstract] [Full Text]
• 112:

  Adenylosuccinate Lyase Deficiency, Georges Van den Berghe / Jaak Jaeken [Abstract] [Full Text]
• 113:

  Hereditary Orotic Aciduria and Other Disorders of Pyrimidine Metabolism, Albert H. van Gennip / André B. P. Van Kuilenburg / David M. O. Becroft / Dianne R. Webster [Abstract] [Full Text]

                                               

• 114:

  Introduction: Structure and Metabolism of Plasma Lipoproteins, John P. Kane / Richard J. Havel [Abstract] [Full Text]
• 115:

  Disorders of the Biogenesis and Secretion of Lipoproteins Containing the B Apolipoproteins, John P. Kane / Richard J. Havel [Abstract] [Full Text]
• 116:

  Lipoprotein(a), Gerd Utermann [Abstract] [Full Text]
• 117:

  Familial Lipoprotein Lipase Deficiency, Apo C-II Deficiency, and Hepatic Lipase Deficiency, John D. Brunzell / Samir S. Deeb [Abstract] [Full Text]
• 117S:

  Association of Variants in the Lipase Genes with Lipid Levels and Coronary Artery Disease, Samir S.  Deeb / John D.  Brunzell [Abstract] [Full Text]  New—February 2009
• 118:

  Lecithin Cholesterol Acyltransferase Deficiency and Fish Eye Disease, Gerd Assmann / H. Bryan Brewer, Jr. / Jeffrey M. Hoeg† / Silvia Santamarina-Fojo [Abstract] [Full Text]
• 119:

  Type III Hyperlipoproteinemia (Dysbetalipoproteinemia): The Role of Apolipoprotein E in Normal and Abnormal Lipoprotein Metabolism, Robert W. Mahley / Stanley C. Rall, Jr. [Abstract] [Full Text]
• 120:

  Familial Hypercholesterolemia, Helen H. Hobbs / Joseph L. Goldstein / Michael S. Brown [Abstract] [Full Text]
• 121:

  Genetic Disorders Affecting Plasma High-Density Lipoproteins, Alan R. Tall / Edward M. Rubin / Jan L. Breslow [Abstract] [Full Text]
• 122:

  Familial Analphalipoproteinemia: Tangier Disease, Arnold von Eckardstein / Gerd Assmann / H. Bryan Brewer, Jr. [Abstract] [Full Text]
• 123:

  Inborn Errors in Bile Acid Biosynthesis and Storage of Sterols Other than Cholesterol, Eran Leitersdorf / Ingemar Björkhem / Kirsten Muri Boberg [Abstract] [Full Text]

                                                           

• 124:

  Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias, Karl E.  Anderson / Shigeru Sassa / David F.  Bishop  /  Robert J.  Desnick [Abstract] [Full Text]
• 125:

  Hereditary Jaundice and Disorders of Bilirubin Metabolism, Allan W. Wolkoff / Irwin M. Arias / Jayanta Roy Chowdhury / Namita Roy Chowdhury [Abstract] [Full Text]

             

• 126:

  Disorders of Copper Transport, Jonathan David Gitlin / Valeria Cizewski Culotta [Abstract] [Full Text]
• 127:

  Hereditary Hemochromatosis, Arno G. Motulsky / Ernest Beutler / Robert W. Charlton / Thomas H. Bothwell [Abstract] [Full Text]
• 128:

  Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency, Jean L. Johnson / Marinus Duran [Abstract] [Full Text]

                 

• 129:

  The Peroxisome Biogenesis Disorders, David Valle / Gerald V. Raymond / Stephen J. Gould [Abstract] [Full Text]
• 130:

  Single Peroxisomal Enzyme Deficiencies, Hugo S. A. Heymans / Peter G. Barth / Ronald J. A. Wanders [Abstract] [Full Text]
• 131:

  X-Linked Adrenoleukodystrophy, Ann B. Moser / Hugo W. Moser / James Powers / Kirby D. Smith / Paul A. Watkins [Abstract] [Full Text]
• 132:

  Refsum Disease, Cornelis Jakobs / Ola H. Skjeldal / Ronald J. A. Wanders [Abstract] [Full Text]
• 133:

  Primary Hyperoxaluria, Christopher J. Danpure [Abstract] [Full Text]

                               

• 134:

  Sphingolipid Activator Proteins, Klaus Harzer / Konrad Sandhoff / Natascha Remmel / Thomas Kolter / Ute Schepers [Abstract] [Full Text]
• 135:

  Glycogen Storage Disease Type II: Acid a-Glucosidase (Acid Maltase) Deficiency, Arnold J.J. Reuser / Rochelle Hirschhorn [Abstract] [Full Text]
• 136:

  The Mucopolysaccharidoses, Elizabeth F. Neufeld / Joseph Muenzer [Abstract] [Full Text]
• 137:

  Pycnodysostosis: Cathepsin K Deficiency, Bruce D. Gelb / Dieter Brömme / Robert J. Desnick [Abstract] [Full Text]
• 138:

  I-Cell Disease and Pseudo-Hurler Polydystrophy: Disorders of Lysosomal Enzyme Phosphorylation and Localization, Stuart Kornfeld / William S. Sly [Abstract] [Full Text]
• 138.1:

  Mucolipidosis Type IV, Ehud Goldin / Janine A. Smith / Raphael Schiffmann / Susan A. Slaugenhaupt [Abstract] [Full Text]
• 139:

  a-N-Acetylgalactosaminidase Deficiency: Schindler Disease, Detlev Schindler / Robert J. Desnick [Abstract] [Full Text]
• 140:

  Disorders of Glycoprotein Degradation: a-Mannosidosis, ß-Mannosidosis, Fucosidosis, and Sialidosis, George H. Thomas [Abstract] [Full Text]
• 141:

  Aspartylglucosaminuria, Anu Jalanko / Leena Peltonen / Pertti Aula [Abstract] [Full Text]
• 142:

  Lysosomal Acid Lipase Deficiencies: The Wolman Disease/Cholesteryl Ester Storage Disease Spectrum, Gregory A. Grabowski / Lawrence Charnas / Hong Du [Abstract] [Full Text]  
  Updated—March 2012
• 143:

  Acid Ceramidase Deficiency: Farber Lipogranulomatosis, Thierry Levade / Konrad Sandhoff / Heike Schulze / Jeffrey A. Medin [Abstract] [Full Text] Revised—June 2009
• 144:

  Niemann-Pick Disease Types A and B: Acid Sphingomyelinase Deficiencies, Edward H. Schuchman / Robert J. Desnick [Abstract] [Full Text]
• 145:

  Niemann-Pick Disease Type C: A Lipid Trafficking Disorder, Edward B. Neufeld / Eugene Carstea / Jill A. Morris / Joan E. Blanchette-Mackie / Kinuko Suzuki / Marc C. Patterson / Marie T. Vanier / Peter G. Pentchev [Abstract] [Full Text]
• 146:

  Gaucher Disease, Gregory A. Grabowski  /  Gregory A. Petsko  /  Edwin H. Kolodny [Abstract] [Full Text] Revised—July 2010
• 146.1:

  Gaucher Disease: Phenotypic and Genetic Variation, Ainu Prakash-Cheng / Barry E. Rosenbloom / Edwin H. Kolodny / Gregory A. Grabowski / Gregory M. Pastores / Joel Charrow / Neal J. Weinreb / Paige Kaplan / Pramod K. Mistry [Abstract] [Full Text]
• 147:

  Galactosylceramide Lipidosis: Globoid Cell Leukodystrophy (Krabbe Disease),  
  David A. Wenger / Kunihiko Suzuki / Yoshiyuki Suzuki / Kinuko Suzuki [Abstract] [Full Text]
• 148:

  Metachromatic Leukodystrophy, Jaak Jaeken / Kurt von Figura / Volkmar Gieselmann [Abstract] [Full Text]
• 149:

  Multiple Sulfatase Deficiency and the Nature of the Sulfatase Family, Andrea Ballabio / John J. Hopwood [Abstract] [Full Text]
• 150:

  a-Galactosidase A Deficiency: Fabry Disease, Christine M. Eng / Robert J. Desnick / Yiannis A. Ioannou [Abstract] [Full Text]
• 151:

   β-Galactosidase Deficiency (β-Galactosidosis): G_M1 Gangliosidosis and Morquio B Disease,
  Yoshiyuki Suzuki / Eiji Nanba / Junichiro Matsuda / Katsumi Higaki / Akihiro Oshima[Abstract] [Full Text] Revised—July 2008
• 152:

  Galactosialidosis, Alessandra d'Azzo / Generoso Andria / Hans Galjaard / Pietro Strisciuglio [Abstract] [Full Text]
• 153:

  The GM2, Kinuko Suzuki / Konrad Sandhoff / Kunihiko Suzuki / Michael M. Kaback / Richard L. Proia / Roy A. Gravel [Abstract] [Full Text]
• 154:

  The Neuronal Ceroid Lipofuscinoses, Leena Peltonen / Sandra L. Hofmann [Abstract] [Full Text]
• 154.1:

  Autophagy and Human Genetic Disease, Benjamin R Underwood / Dunecan C O Massey / David C Rubinsztein [Abstract] [Full Text]  
  New—October 2010

                                                                                                                                 

• 155:

  Inherited Disorders of Folate and Cobalamin Transport and Metabolism, David Watkins / David S. Rosenblatt [Abstract] [Full Text]
• 156:

  Disorders of Biotin Metabolism, Barry Wolf [Abstract] [Full Text]  Revised—August 2011
• 156.1:

  Vitamin B6 Metabolism and Inborn Errors, Philippa B Mills / Emma J Footitt / Peter T Clayton [Abstract] [Full Text]  New—July 2011

             

• 157:

  Obesity, Michael Rosenbaum / Rudolph L. Leibel / Streamson C. Chua [Abstract] [Full Text]
• 158:

  Thyroid Disorders, Gilbert Vassart / Jacques Dumont / Samuel Refetoff [Abstract] [Full Text]
• 159:

  Congenital Adrenal Hyperplasia, Claude J. Migeon / Keith L. Parker / Patricia A. Donohoue [Abstract] [Full Text]
• 160:

  The Androgen Resistance Syndromes: Steroid 5a-Reductase 2 Deficiency, Testicular Feminization, and Related Disorders, David W. Russell / James E. Griffin / Jean D. Wilson / Michael J. McPhaul [Abstract] [Full Text]
• 161:

  Spinobulbar Muscular Atrophy, Lenore K. Beitel / Leonard Pinsky / Mark A. Trifiro / Youssef A. Elhaji [Abstract] [Full Text]
• 162:

  Inherited Defects in Growth Hormone Synthesis and Action, John A. Phillips III / Joy D. Cogan [Abstract] [Full Text]
• 163:

  Nephrogenic Diabetes Insipidus, Daniel G. Bichet / T. Mary Fujiwara [Abstract] [Full Text]
• 164:

  Pseudohypoparathyroidism, Allen M. Spiegel / Lee S. Weinstein [Abstract] [Full Text]
• 165:

  Vitamin D and Other Calciferols, Stephen J. Marx / Uri A. Liberman [Abstract] [Full Text]
• 166:

  Steroid Sulfatase Deficiency and X-Linked Ichthyosis, Andrea Ballabio / Larry J. Shapiro [Abstract] [Full Text]
• 167:

  Adrenal Hypoplasias and Aplasias, Edward R.B. McCabe [Abstract] [Full Text]
• 168:

  Nitric Oxide Synthases, David S. Bredt [Abstract] [Full Text]

                                                                       

• 169:

  Introduction to Hemostasis and the Vitamin K-Dependent Coagulation Factors, Daniel L. Greenberg / Earl W. Davie [Abstract] [Full Text]
• 170:

  Anticoagulant Protein C/Thrombomodulin Pathway, Charles T. Esmon [Abstract] [Full Text]
• 171:

  Disorders of Fibrinogen and Factor XIII, Akitada Ichinose / Dominic W. Chung / Kathleen P. Pratt [Abstract] [Full Text]
• 172:

  Hemophilia A: Deficiency of Coagulation Factor VIII, E. Antonarakis Stylianos / Edward G. D. Tuddenham / Haig H. Kazazian, Jr. [Abstract] [Full Text]
• 173:

  Hemophilia B: Factor IX Deficiency, Eleanor S. Pollak / Katherine A. High [Abstract] [Full Text]
• 174:

  Von Willebrand Disease, J. Evan Sadler [Abstract] [Full Text]
• 175:

  Factor XI and the Contact System, David Gailani / Thomas Renné / Jonas Emsley [Abstract] [Full Text] Revised—August 2010
• 176:

  Antithrombin Deficiency, Douglas M. Tollefsen [Abstract] [Full Text]
• 176S:

  Antithrombin Deficiency, Douglas M. Tollefsen [Abstract] [Full Text]  
  Supplement—January 2009
• 177:

  Inherited Disorders of Platelets, Deborah L. French / Mortimer Poncz / Peter J. Newman [Abstract] [Full Text]
• 178:

  Disorders of the Fibrinolytic System, David Ginsburg [Abstract] [Full Text]
• 179:

  Glucose 6-Phosphate Dehydrogenase Deficiency, Atul Mehta / Lucio Luzzatto / Tom Vulliamy [Abstract] [Full Text]
• 180:

  Cytochrome b5, Ernst R. Jaffé  / Donald E. Hultquist  [Abstract] [Full Text]
• 181:

  The Hemoglobinopathies, D.J. Weatherall / D.R. Higgs / J.B. Clegg / W.G. Wood [Abstract] [Full Text]
• 182:

  Pyruvate Kinase Deficiency and Other Enzymopathies of the Erythrocyte, Akira Hirono / Ernest Beutler / Hitoshi Kanno / Shiro Miwa [Abstract] [Full Text]
• 183:

  Hereditary Spherocytosis and Hereditary Elliptocytosis, Samuel E. Lux / William T. Tse [Abstract] [Full Text]

                                                                                      

• 184:

  Antibody Deficiencies, Mary Ellen Conley [Abstract] [Full Text]  Revised—May 2009
• 185:

  T Cell and Combined Immunodeficiency Disorders, Jennifer M. Puck / John W. Belmont [Abstract] [Full Text]
• 186:

  Genetically Determined Disorders of the Complement System, Jerry A. Winkelstein / Kathleen E. Sullivan [Abstract] [Full Text]
• 187:

  Immotile Cilia Syndrome (Primary Ciliary Dyskinesia), Including Kartagener Syndrome, Björn Mossberg / Björn A. Afzelius / Sten Erik Bergström [Abstract] [Full Text] Updated—August 2007
• 188:

  Leukocyte Adhesion Deficiencies, C. Wayne Smith / Donald C. Anderson [Abstract] [Full Text]
• 189:

  Inherited Disorders of Oxidative Phagocyte Killing, Mary C. Dinauer / William M. Nauseef / Peter E. Newburger [Abstract] [Full Text]  Revised—October 2009

                                

• 190:

  Familial Glucose-Galactose Malabsorption and Hereditary Renal Glycosuria, Eric Turk / Ernest M. Wright / Martín G. Martín [Abstract] [Full Text]
• 191:

  Cystinuria, Manuel Palacín / Paolo Gasparini / Paul Goodyer / Virginia Nunes [Abstract] [Full Text]
• 192:

  Lysinuric Protein Intolerance and Other Cationic Aminoacidurias, Olli Simell [Abstract] [Full Text]
• 193:

  Hartnup Disorder, Harvey L. Levy [Abstract] [Full Text]
• 194:

  Iminoglycinuria, Stefan Bröer / Russell W. Chesney [Abstract][Full Text]  
  Revised—November 2010
• 195:

  Renal Tubular Acidosis, Robert J. Alpern / Thomas D. DuBose, Jr. [Abstract] [Full Text]
• 196:

  The Renal Fanconi Syndrome, Michel Bergeron / André Gougoux / Josette Noël / Lucie Parent  [Abstract] [Full Text]
• 197:

  Mendelian Hypophosphatemias, Harriet S. Tenenhouse / Michael J. Econs [Abstract] [Full Text]
• 198:

  Hereditary Renal Hypouricemia,  Oded Sperling [Abstract] [Full Text]
• 198S:

  Hereditary Renal Hypouricemia: Identification of the Gene Defect in Hereditary Renal Hypouricemia, Oded Sperling [Abstract] [Full Text]  
  Supplement—January 2008
• 199:

  Cystinosis: A Disorder of Lysosomal Membrane Transport, Jerry A. Schneider / Jess G. Thoene / William A. Gahl [Abstract] [Full Text]
• 200:

  Disorders of Free Sialic Acid Storage, Pertti Aula / William A. Gahl [Abstract] [Full Text]

  
  

  200S:

  Recent Developments in Disorders of Free Sialic Acid Storage, Nina Aula / Pertti Aula / William A. Gahl [Abstract] [Full Text]
• 201:

  Cystic Fibrosis, Bonnie W. Ramsey / Frank Accurso / Garry R. Cutting / Michael J. Welsh [Abstract] [Full Text]
• 202:

  Defects in Sulfate Metabolism and Skeletal Dysplasias, Andrea Superti-Furga [Abstract] [Full Text]
• 203:

  Familial Cardiac Arrhythmias, Mark T. Keating / Michael C. Sanguinetti [Abstract] [Full Text]
• 204:

  Channelopathies: Episodic Disorders of the Nervous System, Joanna Jen / Louis Ptácek [Abstract] [Full Text]

                                                                                           

• 205:

  Disorders of Collagen Biosynthesis and Structure, Peter H. Byers [Abstract] [Full Text]
• 206:

  Marfan Syndrome and Related Disorders, Harry C. Dietz / Reed E. Pyeritz [Abstract] [Full Text]
• 207:

  Hypophosphatasia, Michael P. Whyte [Abstract] [Full Text]
• 208:

  The Carbonic Anhydrase II Deficiency Syndrome: Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification, Gul N. Shah / William S. Sly [Abstract] [Full Text]
• 209:

  Amyloidosis, Merrill D. Benson [Abstract] [Full Text]
• 210:

  Achondroplasia and Pseudoachondroplasia, Clair A. Francomano / Douglas J. Wilkin / Jacqueline T. Hecht [Abstract] [Full Text]

                                   

• 211:

  The Inherited Basis of Blood Pressure Variation and Hypertension, Ali Gharavi / Richard P. Lifton [Abstract] [Full Text]
• 212:

  Hereditary Hemorrhagic Telangiectasia, Andreas Lux / Douglas A. Marchuk [Abstract] [Full Text]
• 213:

  Hypertrophic Cardiomyopathy, Christine E. Seidman / J.G. Seidman [Abstract] [Full Text]

                 

• 214:

  Alport Syndrome and Basement Membrane Collagen, Paula Martin / Tryggvason Karl [Abstract] [Full Text]
• 215:

  Autosomal Dominant Polycystic Kidney Disease, Arlene B. Chapman / Gregory G. Germino [Abstract] [Full Text]

             

• 216:

  The Muscular Dystrophies, Peter B. Kang / Louis M. Kunkel [Abstract] [Full Text]
• 217:

  Myotonic Dystrophy, Peter S. Harper / Keith Johnson [Abstract] [Full Text]

  
  

  217S:

  Proximal Myotonic Myopathy and the Type 2 Myotonic Dystrophy Mutation: Implications for Our Understanding of Myotonic Dystrophy, Keith Johnson / Peter S. Harper [Abstract] [Full Text]

             

• 218:

  Hereditary Surfactant Protein B Deficiency, Jeffrey A. Whitsett / Lawrence M. Nogee [Abstract] [Full Text]
• 219:

  a1, Diane Wilson Cox [Abstract] [Full Text]

            

• 220:

  Albinism, Donnell J. Creel / Richard A. King / Vincent J. Hearing / William S. Oetting [Abstract] [Full Text]
• 221:

  Disorders of Intermediate Filaments and Their Associated Proteins, Elaine Fuchs [Abstract] [Full Text]
• 222.1:

  Genetics of Psoriasis, Elisha D.O. Roberson / Anne M. Bowcock [Abstract] [Full Text]  
  New—September 2010
• 222:

  Epidermolysis Bullosa: The Disease of the Cutaneous Basement Membrane Zone [Abstract] [Full Text]

                   

• 223:

  Huntington Disease, Berry Kremer / Michael R. Hayden [Abstract] [Full Text]
• 224:

  Prion Diseases, Stanley B. Prusiner [Abstract] [Full Text]
• 225:

  Kallmann Syndrome, Andrea Ballabio / Elena I. Rugarli [Abstract] [Full Text]
• 226:

  Spinocerebellar Ataxias, Harry T. Orr / Huda Y. Zoghbi [Abstract] [Full Text]
• 227:

  Charcot-Marie-Tooth Peripheral Neuropathies and Related Disorders, Carlos A. Garcia / James R. Lupski [Abstract] [Full Text]
• 228:

  Pelizaeus-Merzbacher Disease and the Allelic Disorder X-linked Spastic Paraplegia Type 2, Lynn D. Hudson [Abstract] [Full Text]
• 228.1:

  Hereditary Spastic Paraplegias, Evan Reid/Elena I. Rugarli [Abstract] [Full Text] New—May 2010
• 229:

  Aspartoacylase Deficiency (Canavan Disease), Arthur L. Beaudet [Abstract] [Full Text]
• 229.1:

  Aminoacylase I Deficiency,  Rudy Van Coster  [Abstract] [Full Text]
• 230:

  The Inherited Epilepsies, Jeffrey L. Noebels [Abstract] [Full Text]
• 231:

  Spinal Muscular Atrophy, Carmen Cifuentes-Diaz / Cristina Panozzo / Judith Melki / Tony Frugier [Abstract] [Full Text]
• 232:

  Friedreich Ataxia and AVED, Michel Koenig [Abstract] [Full Text]
• 233:

  Tuberous Sclerosis, Julian R. Sampson [Abstract] [Full Text]
• 234:

  Alzheimer Disease and the Frontotemporal Dementias: Diseases with Cerebral Deposition of Fibrillar Proteins, L.A. Farrer / M. Goedert / P.H. St George-Hyslop [Abstract] [Full Text]
• 235.1:

  VANISHING WHITE MATTER, Marjo S. van der Knaap/ Marianna Bugiani/ Ilja Boor/ Chris G. Proud/ Gert C. Scheper [Abstract] [Full Text] New—June 2010
• 235.2:

  The Role of Genetics in Multiple Sclerosis, Britt A. Johnson,Jorge R. Oksenberg [Abstract] [Full Text] 
  Updated—October 2012

                                                                           

• 235:

  Retinitis Pigmentosa and Stationary Night Blindness, Thaddeus P. Dryja [Abstract] [Full Text]
• 236:

  Choroideremia, Frans P. M. Cremers / Hans-Hilger Ropers [Abstract] [Full Text]
• 237:

  Leber Congenital Amaurosis, Arnold Munnich / Isabelle Perrault / Jean-Michel Rozet / Josseline Kaplan [Abstract] [Full Text]
• 238:

  Color Vision and Its Genetic Defects, Arno G. Motulsky / Samir S. Deeb [Abstract] [Full Text]
• 239:

  Norrie Disease, Hans-Hilger Ropers / Wolfgang Berger [Abstract] [Full Text]
• 240:

  Transcription Factors in Eye Disease and Ocular Development, Carol Freund / D. Jonathan Horsford / Isabel Hanson / Roderick R. McInnes / Veronica van Heyningen [Abstract] [Full Text]
• 241:

  Molecular Biology and Inherited Disorders of the Eye Lens, J. F. Hejtmancik / Joram Piatigorsky / M. I. Kaiser [Abstract] [Full Text]
• 242:

  The Glaucomas, Edwin M. Stone / Val C. Sheffield / Wallace L. M. Alward [Abstract] [Full Text]
• 243:

  Inherited Macular Dystrophies and Susceptibility to Degeneration, James R. Lupski / Rando Allikmets / Richard Alan Lewis [Abstract] [Full Text]

                                                      

• 244:

  Waardenburg Syndrome, Andrew P. Read [Abstract] [Full Text]
• 245:

  Craniosynostosis Syndromes, Andrew O.M. Wilkie / Maximilian Muenke [Abstract] [Full Text]
• 246:

  Treacher Collins Syndrome, Karen L. Marsh / Michael J. Dixon [Abstract] [Full Text]
• 247:

  Aarskog-Scott Syndrome, Jerome L. Gorski [Abstract] [Full Text]
• 248:

  Rubinstein-Taybi Syndrome, Fred Petrij / Martijn H. Breuning / Rachel H. Giles / Raoul C.M. Hennekam [Abstract] [Full Text]
• 249:

  Smith-Lemli-Opitz Syndrome, Raoul C. M. Hennekam / Richard I. Kelley [Abstract] [Full Text]
• 250:

  Holoprosencephaly, Maximilian Muenke / Philip A. Beachy [Abstract] [Full Text]
• 251:

  Hirschsprung Disease, Andrew S. McCallion / Aravinda Chakravarti / Stanislas Lyonnet [Abstract] [Full Text]
• 252:

  The Oculocerebrorenal Syndrome of Lowe (Lowe Syndrome), Robert L. Nussbaum / Sharon F. Suchy [Abstract] [Full Text]
• 253:

  Campomelic Dysplasia/Autosomal Sex Reversal/SOX9, Alan J. Schafer [Abstract] [Full Text]
• 254:

  Hereditary Hearing Loss, Christine Petit / Jacqueline Levilliers / Jean-Pierre Hardelin / Sandrine Marlin [Abstract] [Full Text]
• 255:

  Rett Syndrome, Huda Y. Zoghbi / Uta Francke [Abstract] [Full Text]

                   

• 256:

  The Role of Genetics in Multiple Sclerosis, Britt A. Johnson,Jorge R. Oksenberg [Abstract] [Full Text] 
  November 2012

• 257:

  Complex III Deficiencies, Paule Bénit,Manuel Schiff,Pierre Rustin [Abstract] [Full Text]

                                                                    

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