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PubMed
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GeneReviews
View MMBID Chapter Archive
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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): G
M1
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
Dan L. Longo / Robert G. Fenton
April 2008
PART 8: AMINO ACIDS
Chapter 77: Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency
Charles R. Scriver / Harvey Levy / John Donlon
March 2008
PART 7: CARBOHYDRATES
Chapter 73S: Ribose-5-Phosphate Isomerase Deficiency and Transaldolase Deficiency
Cornelis Jakobs / Mirjam M.C. Wamelink
February 2008
PART 7: CARBOHYDRATES
Chapter 72: Galactosemia
Judith L. Fridovich-Keil / 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 / Björn Mossberg / 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
January 2007
PART 4: CANCER
Chapter 44: Malignant Melanoma
Steven Kazianis / Meenhard Herlyn