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Hereditary Motor-Sensory Neuropathies
Mitochondrial Hepatopathies
Cystic Diseases of the Biliary Tract and Liver
Congenital Hypoplastic Anemia (Diamond-Blackfan Anemia)
Hemoglobinopathies
Bartter and Gitelman Syndromes and Other Inherited Tubular Transport Abnormalities
Other Membrane Defects
Disorders Involving Ion Transporters