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Topic: Metabolic Disorders


Anatomy/Physiology

- Genes and Disease: Nutritional and Metabolic Disea - National Center for Biotechnology Information

Children

- Understanding MPS and ML: Is Your Child Having an - National MPS Society

Clinical Trials

- ClinicalTrials.gov: Progeria - National Institutes of Health
- ClinicalTrials.gov: Metabolic Diseases - National Institutes of Health
- ClinicalTrials.gov: Mucolipidoses - National Institutes of Health
- ClinicalTrials.gov: Mucopolysaccharidoses - National Institutes of Health

Diagnosis/Symptoms

- Diagnostic Testing: Hutchinson-Gilford Progeria S - Progeria Research Foundation, Inc.

Directories

- Organizations for Endocrine and Metabolic Disease - National Institute of Diabetes and Digestive and Kidney Diseases
- Laboratory Directory-GeneReviews - Children's Health Care System, Seattle
- Genetic and Rare Diseases Information Center - Office of Rare Diseases
- US Clinic Directory Search - Children's Health Care System, Seattle

Disease Management

- Management of MPS (Mucopolysaccharidosis) and ML ( - National MPS Society
- Important Information for You and Your Doctors abo - Progeria Research Foundation, Inc.

Genetics

- Genetics Home Reference: Mitochondrial trifunction - National Library of Medicine
- Genetics Home Reference: Propionic acidemia - National Library of Medicine
- Genetics Home Reference: Galactosemia - National Library of Medicine
- Genetics Home Reference: Long-chain 3-hydroxyacyl- - National Library of Medicine
- Genetics Home Reference: Methylmalonic acidemia - National Library of Medicine
- Genetics Home Reference: Medium-chain acyl-coenzym - National Library of Medicine
- Genetics Home Reference: Maple syrup urine disease - National Library of Medicine
- Genetics Home Reference: Isovaleric acidemia - National Library of Medicine
- Genetics Home Reference: Hutchinson-Gilford proger - National Library of Medicine
- Genetics Home Reference: Homocystinuria - National Library of Medicine
- Genetics Home Reference: Glucose-6-phosphate dehyd - National Library of Medicine
- Genetics Home Reference: Biotinidase deficiency - National Library of Medicine
- Genetics Home Reference: Alkaptonuria - National Library of Medicine
- Genetics Home Reference: Trimethylaminuria - National Library of Medicine
- Genetics Home Reference: Very long-chain acyl-coen - National Library of Medicine
- Researchers Identify Gene for Premature Aging Diso - National Human Genome Research Institute
- Genetics Home Reference: Niemann-Pick disease - National Library of Medicine
- Genetics Home Reference: Familial lipoprotein lipa - National Library of Medicine
- Genetics Home Reference: Primary hyperoxaluria - National Library of Medicine

National Institutes of Health

- Lipid Storage Diseases - National Institute of Neurological Disorders and Stroke

Nutrition

- Nutritional Supplements in Hutchinson-Gilford Prog - Progeria Research Foundation, Inc.

Organizations

- Barth Syndrome Foundation -
- Save Babies Through Screening Foundation -
- United Mitochondrial Disease Foundation -
- Progeria Research Foundation, Inc. -
- Oxalosis and Hyperoxaluria Foundation -
- National MPS Society (Mucopolysaccharidoses) - National MPS Society
- National Institute of Diabetes and Digestive and K -

Overviews

- Hereditary Disorders of Metabolism - Merck & Co., Inc.

Prevention/Screening

- Newborn Screening Tests - March of Dimes Birth Defects Foundation
- Layperson's Guide to Tandem Mass Spectrometry - Save Babies Through Screening Foundation

Research

- Birth Defects and Developmental Disabilities - National Institute of Child Health and Human Development
- NCI Study Demonstrates That Cellular Defects in Pr - National Cancer Institute

Seniors

- Low Blood Sodium in Older Adults (Hyponatremia) - Mayo Foundation for Medical Education and Research

Specific Conditions

- Amino Acid Metabolism Disorders - Merck & Co., Inc.
- Methylmalonic Aciduria (MMA) - Save Babies Through Screening Foundation
- What Is Progeria? - Progeria Research Foundation, Inc.
- Guide to Understanding Sanfilippo Syndrome: Mucopo - National MPS Society
- Guide to Understanding Morquio Syndrome: Mucopolys - National MPS Society
- Guide to Understanding Maroteaux-Lamy Syndrome: Mu - National MPS Society
- Guide to Understanding I-Cell Disease and Pseudo-H - National MPS Society
- Guide to Understanding Hurler, Hurler-Scheie and S - National MPS Society
- Guide to Understanding Hunter Syndrome: Mucopolysa - National MPS Society
- Genes and Disease: Glucose Galactose Malabsorption - National Center for Biotechnology Information
- G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase - Nemours Foundation
- Carnitine Palitoyl Transferase Deficiency Type II - Save Babies Through Screening Foundation
- Carbohydrate Metabolism Disorders - Merck & Co., Inc.
- Biotinidase Deficiency - Save Babies Through Screening Foundation
- Barth Syndrome - National Institute of Neurological Disorders and Stroke
- Amyloidosis - Merck & Co., Inc.
- Amyloidosis - Mayo Foundation for Medical Education and Research
- About Barth Syndrome - Barth Syndrome Foundation
- Guide to Understanding Sly Syndrome: Mucopolysacch - National MPS Society
- Hypophosphatasia - Osteoporosis and Related Bone Diseases-National Resource Center
- Learning about Progeria - National Human Genome Research Institute
- What Is Hyperoxaluria and Oxalosis? - Oxalosis and Hyperoxaluria Foundation
- What Is a Urea Cycle Disorder? - National Urea Cycle Disorders Foundation
- Type I Glycogen Storage Disease - American Liver Foundation
- Pyruvate Metabolism Disorders - Merck & Co., Inc.
- Propionic Acidemia - Save Babies Through Screening Foundation
- Pompe Disease - National Institute of Neurological Disorders and Stroke
- Nonketotic Hyperglycinemia - Save Babies Through Screening Foundation
- Multiple CoA Carboxylase Deficiency - Save Babies Through Screening Foundation
- Mucopolysaccharidoses - National Institute of Neurological Disorders and Stroke
- Mucolipidoses - National Institute of Neurological Disorders and Stroke
- Mitochondrial Myopathies - Muscular Dystrophy Association
- Metabolic Diseases of Muscle - Muscular Dystrophy Association
- Lipid Metabolism Disorders - Merck & Co., Inc.
- Lesch-Nyhan Syndrome - National Institute of Neurological Disorders and Stroke
- Learning about Trimethylaminuria - National Human Genome Research Institute

Treatment

- FDA Approves First Treatment for Genetic Metabolic - Food and Drug Administration

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