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Results 1 - 10 of 22 for Phosphoglycerate dehydrogenase deficiency
  1. ... Registry Genetic testing OMIM Genetic disorder catalog Conditions > Phosphoglycerate dehydrogenase deficiency On this page: Description Genetic changes Inheritance Diagnosis ...
  2. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
  3. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
  4. Genetics Home Reference: Seizures From the National Institutes of Health (National Library of Medicine)  
    ... epilepsy myopathy sensory ataxia paroxysmal extreme pain disorder phosphoglycerate dehydrogenase deficiency pyridoxal 5'-phosphate-dependent epilepsy pyridoxine-dependent epilepsy ...
  5. Metabolic Diseases of Muscle (Muscular Dystrophy Association) - PDF  
    ... deficiency Carnitine palmityl transferase deficiency Phosphoglycerate kinase deficiency Phosphoglycerate mutase deficiency Lactate dehydrogenase deficiency Myoadenylate deaminase deficiency Myopathies Due to Endocrine ...
  6. Spinal Muscular Atrophy (SMA) (Muscular Dystrophy Association) - PDF  
    ... deficiency Carnitine palmityl transferase deficiency Phosphoglycerate kinase deficiency Phosphoglycerate mutase deficiency Lactate dehydrogenase deficiency Myoadenylate deaminase deficiency Myopathies Due to Endocrine ...
  7. ... deficiency Carnitine palmityl transferase deficiency Phosphoglycerate kinase deficiency Phosphoglycerate mutase deficiency Lactate dehydrogenase deficiency Myoadenylate deaminase deficiency Myopathies Due to Endocrine ...
  8. Charcot-Marie-Tooth and Related Diseases (Muscular Dystrophy Association) - PDF  
    ... deficiency Carnitine palmityl transferase deficiency Phosphoglycerate kinase deficiency Phosphoglycerate mutase deficiency Lactate dehydrogenase deficiency Myoadenylate deaminase deficiency Myopathies Due to Endocrine ...
  9. ... deficiency Carnitine palmityl transferase deficiency Phosphoglycerate kinase deficiency Phosphoglycerate mutase deficiency Lactate dehydrogenase deficiency Myoadenylate deaminase deficiency Myopathies Due to Endocrine ...
  10. Neuromuscular Disease Descriptions (Muscular Dystrophy Association)  
    ... disease) Phosphofructokinase deficiency (Tarui disease) Phosphoglycerate kinase deficiency Phosphoglycerate mutase deficiency Lactate dehydrogenase deficiency Age of onset: childhood, adolescence or adulthood ...
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