Specific Genetic Disorders

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Pub Date A-Z
Immune Deficiency: Severe Combined Immune Deficiency
Jintanat Ananworanich, William T Shearer
Published online: January 2003
Fructose Metabolism Disorders
TM Cox
Published online: March 2002
Glycogen Storage Diseases
TM Cox
Published online: March 2002
Renal Fanconi Syndrome
Michel Bergeron, André Gougoux
Published online: April 2001
Familial Hypercholesterolaemia
Carl Fisher, Bradley E Bernstein, Stephen C Blacklow
Published online: April 2001
Familial Mediterranean Fever
Bernard M Babior, Yaacov Matzner
Published online: April 2001
Haemophilias
Johannes Walter, Katherine High
Published online: April 2001
Phenylketonuria
George C‐T Jiang, George J Yohrling IV, Kent E Vrana
Published online: April 2001
Globin Synthesis
Steven Fiering, David IK Martin, Eric E Bouhassira
Published online: April 2001
Polycystic Disease of the Kidney
PC Harris
Published online: April 2001
Inborn Errors of Metabolism
Nancy D Leslie, Gregory A Grabowski
Published online: April 2001
Iron Overload and Chelation Therapy
Kenneth R Bridges
Published online: April 2001
Blood Clotting: General Pathway
Kathleen L Berkner
Published online: April 2001
Huntington Disease
James F Gusella
Published online: April 2001
Duchenne Muscular Dystrophy
Marek Michalak, Michal Opas
Published online: April 2001
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