Overview

• Genetic Brain Disorders (National Institute of Health)

Specific Condiditons From MedLine

• Alpers' Disease (National Institute of Neurological Disorders and Stroke)
• Argininemia (Save Babies Through Screening Foundation)
• Cerebellar Degeneration (National Institute of Neurological Disorders and Stroke)
• Citrullinemia (Save Babies Through Screening Foundation)
• Fabry's Disease (National Institute of Neurological Disorders and Stroke)
• Fahr's Syndrome (National Institute of Neurological Disorders and Stroke)
• Galactosemia (American Liver Foundation)
• Gerstmann-Straussler-Scheinker Disease (National Institute of Neurological Disorders and Stroke)
• Homocystinuria (Save Babies Through Screening Foundation)
• Joubert Syndrome (National Institute of Neurological Disorders and Stroke)
• Leigh's Disease (National Institute of Neurological Disorders and Stroke)
• Lesch-Nyhan Syndrome (National Institute of Neurological Disorders and Stroke)
• Maple Syrup Urine Disease (MSUD) (Save Babies Through Screening Foundation)
• Menkes Disease (National Institute of Neurological Disorders and Stroke)
• Mitochondrial Myopathies (National Institute of Neurological Disorders and Stroke)
• Moyamoya Disease (National Institute of Neurological Disorders and Stroke)
• Niemann-Pick Disease (National Institute of Neurological Disorders and Stroke)
• Nonketotic Hyperglycinemia (Save Babies Through Screening Foundation)
• Refsum Disease (National Institute of Neurological Disorders and Stroke)
• Tyrosinemia (American Liver Foundation)
• What Is a Urea Cycle Disorder? (National Urea Cycle Disorders Foundation)
• What Is Niemann-Pick Disease? (National Niemann-Pick Disease Foundation)
• Zellweger Syndrome (National Institute of Neurological Disorders and Stroke)

Screening

• Layperson's Guide to Tandem Mass Spectrometry and Newborn Screening (Save Babies Through Screening Foundation)

Genetics From MedLine

• Genetics Home Reference: Fabry disease (National Library of Medicine)
• Genetics Home Reference: Galactosemia (National Library of Medicine)
• Genetics Home Reference: Lesch-Nyhan syndrome (National Library of Medicine)
• Genetics Home Reference: Maple syrup urine disease (National Library of Medicine)
• Genetics Home Reference: Menkes syndrome (National Library of Medicine)
• Genes and Disease: Glucose Galactose Malabsorption (GGM) (National Center for Biotechnology Information)
• Genes and Disease: Maple Syrup Urine Disease (National Center for Biotechnology Information)
• Genes and Disease: Refsum Disease (National Center for Biotechnology Information)
• Genes and Disease: Zellweger Syndrome (National Center for Biotechnology Information)

Ogranizations and Patient-Centered Sites

• MSUD (Maple Syrup Urine Disease) Family Support Group (MSUD Family Support Group)
• National Institute of Neurological Disorders and Stroke
• National Newborn Screening and Genetics Resource Center
• National Niemann-Pick Disease Foundation
• Save Babies Through Screening Foundation