Resources

• About Barth Syndrome (Barth Syndrome Foundation)
• About Primary Hyperoxaluria (Oxalosis and Hyperoxaluria Foundation)
• Amino Acid Metabolism Disorders (Merck & Co., Inc.)
• Amyloidosis (MayoClinic)
• Barth Syndrome (National Institute of Neurological Disorders and Stroke)
• Barth Syndrome (National Institute of Neurological Diseases and Stroke)
• Barth Syndrome Foundation
• Biotinidase Deficiency (Save Babies Through Screening)
• Birth Defects and Developmental Disabilities (National Institute of Child Health and Human Development)
• Carbohydrate Metabolism Disorders (Merck & Co., Inc.)
• Carnitine Palitoyl Transferase Deficiency Type II (CPT-II) (Save Babies Through Screening)
• ClinicalTrials.gov: Metabolic Diseases (National Institutes of Health)
• ClinicalTrials.gov: Mucolipidoses (National Institutes of Health)
• ClinicalTrials.gov: Mucopolysaccharidoses (National Institutes of Health)
• Diagnostic Testing: Hutchinson-Gilford Progeria Syndrome (HGPS) (Progeria Research Foundation, Inc.)
• Fabry's Disease (National Institute of Neurological Diseases and Stroke)
• FDA Approves First Treatment for Genetic Metabolic Disorder Including Hurler Disorder (U.S. Food and Drug Administration)
• G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase) (Nemours Foundation)
• Gaucher's Disease (Medline Plus)
• Gaucher's Disease (National Institute of Neurological Disorders and Stroke)
• Gene Therapy Repairs Neurological Damage in Animal Model for Rare Metabolic Disease (National Institute of Neurological Disorders and Stroke)
• Genes and Disease: Glucose Galactose Malabsorption (GGM) (National Center for Biotechnology Information)
• Genes and Disease: Nutritional and Metabolic Diseases (National Center for Biotechnology Information)
• Genetic and Rare Conditions Site (University of Kansas, Genetics Education Center) - - organizations and support groups
• Genetic and Rare Diseases Information Center (Office of Rare Diseases)
• Genetics Home Reference: Alkaptonuria (Genetics Home Reference)
• Genetics Home Reference: Biotinidase deficiency (Genetics Home Reference)
• Genetics Home Reference: Homocystinuria (Genetics Home Reference)
• Genetics Home Reference: Hutchinson-Gilford progeria syndrome (Genetics Home Reference)
• Genetics Home Reference: Hyperoxaluria, primary (National Library of Medicine)
• Genetics Home Reference: Lipoprotein lipase deficiency, familial (National Library of Medicine)
• Genetics Home Reference: Methylmalonic acidemia (Genetics Home Reference)
• Genetics Home Reference: Propionic acidemia (Genetics Home Reference)
• Guide to Understanding Hunter Syndrome: Mucopolysaccharidosis (MPS) II (National MPS Society) - Links to PDF File
• Guide to Understanding Hurler, Hurler-Scheie and Scheie Syndromes: Mucopolysaccharidosis (MPS) I (National MPS Society) - Links to PDF File
• Guide to Understanding I-Cell Disease and Pseudo-Hurler Polydystrophy: Mucolipidoses (ML) II and III (National MPS Society) - Links to PDF File
• Guide to Understanding Maroteaux-Lamy Syndrome: Mucopolysaccharidosis (MPS) VI (National MPS Society) - Links to PDF File
• Guide to Understanding Morquio Syndrome: Mucopolysaccharidosis (MPS) IV (National MPS Society) - Links to PDF File
• Guide to Understanding Sanfilippo Syndrome: Mucopolysaccharidosis (MPS) III (National MPS Society) - Links to PDF File
• Guide to Understanding Sly Syndrome: Mucopolysaccharidosis (MPS) VII (National MPS Society) - Links to PDF File
• Hereditary Disorders of Metabolism: Introduction (Merck & Co., Inc.)
• Hypophosphatasia (National Institute of Arthritis and Musculoskeletal and Skin Diseases)
• Important Information for You and Your Doctors about Low-Dose Aspirin Treatment and Progeria (Progeria Research Foundation, Inc.) - Links to PDF File
• Information for Patients about Primary Hyperparathyroidism (National Institute of Arthritis and Musculoskeletal and Skin Diseases)
• Laboratory Directory-GeneReviews (Children's Health Care System, Seattle)
• Layperson's Guide to Tandem Mass Spectrometry and Newborn Screening (Save Babies Through Screening)
• Learning about Progeria (National Human Genome Research Institute)
• Learning about Trimethylaminuria (National Human Genome Research Institute)
• Lesch-Nyhan Syndrome (National Institute of Neurological Disorders and Stroke)
• Lesch-Nyhan Syndrome Information Page (National Institute of Neurological Diseases and Stroke)
• Low Blood Sodium in Older Adults (Hyponatremia) (Mayo Foundation for Medical Education and Research)
• Management of MPS (Mucopolysaccharidosis) and ML (Mucolipidoses) (National MPS Society) - Links to PDF File (National MPS Society)
• Menkes Disease (National Institute of Neurological Diseases and Stroke)
• Metabolic Diseases of Muscle (Muscular Dystrophy Association)
• Metabolic Disorders (National Library Medicine)
• Metabolic Disorders (National Women's Health Information Center)
• Metabolic Disorders (Medline Plus)
• Metabolic Disorders (National Institutes of Health)
• Methylmalonic Aciduria (MMA) (Save Babies Through Screening)
• Mitochondrial Myopathies (National Institute of Neurological Diseases and Stroke)
• Mitochondrial Myopathies (Muscular Dystrophy Association)
• MPS (Mucopolysaccharidoses) Glossary (National MPS Society)
• MPS and ML Disorders (Mucopolysaccharidoses and Mucolipidoses) (National MPS Society)
• Mucolipidoses (National Institute of Neurological Disorders and Stroke)
• Mucolipidoses (National Institute of Neurological Diseases and Stroke)
• Mucopolysaccharidoses (National Institute of Neurological Disorders and Stroke)
• Mucopolysaccharidoses (National Institute of Neurological Diseases and Stroke)
• Multiple CoA Carboxylase Deficiency (Save Babies Through Screening)
• National Institute of Diabetes and Digestive and Kidney Diseases
• National MPS Society (Mucopolysaccharidoses) (National MPS Society)
• Neurological Manifestations of Pompe Disease (National Institute of Neurological Disorders and Stroke)
• New Mouse Model Will Aid Research on Premature Aging Syndrome (National Cancer Institute)
• Newborn Screening Tests (March of Dimes Birth Defects Foundation)
• Niemann-Pick Disease (National Institute of Neurological Disorders and Stroke)
• Niemann-Pick Disease Information Page (National Institute of Neurological Diseases and Stroke)
• NINDS Alphabetical List of Disorders (National Institute of Neurological Diseases and Stroke)
• Nutritional Supplements in Hutchinson-Gilford Progeria Syndrome (Progeria Research Foundation, Inc.) - Links to PDF File
• Organizations for Endocrine and Metabolic Diseases (National Institute of Diabetes and Digestive and Kidney Diseases)
• Oxalosis and Hyperoxaluria Foundation
• Pompe Disease (National Institute of Neurological Diseases and Stroke)
• Progeria Research Foundation, Inc.
• Propionic Acidemia (Save Babies Through Screening)
• Pyruvate Metabolism Disorders (Merck & Co., Inc.)
• Researchers Identify Gene for Premature Aging Disorder (Progeria) (National Human Genome Research Institute)
• Sandhoff Disease (National Institute of Neurological Diseases and Stroke)
• Save Babies Through Screening Foundation (Save Babies Through Screening)
• Simple Test Could Save Your Baby's Life: A Parent's Guide to Newborn Screening (Save Babies Through Screening) - Links to PDF File
• Type I Glycogen Storage Disease (American Liver Foundation)
• Understanding MPS and ML: Is Your Child Having an Anesthetic? (National MPS Society) - Links to PDF File
• United Mitochondrial Disease Foundation
• US Clinic Directory Search (Children's Health Care System, Seattle)
• Use of Bisphosphonates in Metabolic Bone Diseases (National Institute of Arthritis and Musculoskeletal and Skin Diseases)
• What Is a Urea Cycle Disorder? (National Urea Cycle Disorders Foundation)
• What Is Progeria? (Progeria Research Foundation, Inc.)