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View Parent Category Metabolic Disorders

The disruption of the processes of converting food to energy at cellular level caused by inherited mutations (eg, alpha-1 antitrypsin deficiency; porphyria; inborn errors of metabolism: maple syrup urine disease, diseases involving urea cycle; storagediseases: Fabry disease, Tay-Sachs disease, glycogen storage disease; mucopolysaccharidoses).

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Glutaric Acidemia Type II (GA-II) chart
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An MTHFR Mutation is a potentially dangerous va...
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Activating mutations in GNAQ coding for an alph...
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Mutation in STRADA coding for the TE20-related...
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Tay Sachs Disease
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MTHFR treatment with B12 methylfolate, methylco...
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What's the Big Deal About Methylation? Maybe yo...
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What is an MTHFR gene mutation What is an MTHFR...
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Abetalipoproteinemia - Mutation in Microsomal T...
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Alkaptonuria (black urine disease or alcaptonur...
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MTHFR mutations
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Making Sense of MTHFR Polymorphisms
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Classical / Most common Galactosemia - GALT ( G...
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ALD... Peroxisomal disorder...
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Fabrys disease
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Porphyrias... [ (Acute intermittent porphyria i...
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Fabry disease
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Neimann Picks
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Check out this infographic and help raise aware...
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Refeeding Syndrome
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Refeeding syndrome
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Phenylketonuria (PKU)
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Vitamin B12 deficiency causes reversible megalo...
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Enzyme replacement therapy ... #Gaucher #Pompe...
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Glycogen storage diseases
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4Ds of Pallegra
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Tay Sachs disease (also known as GM2 gangliosid...
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Metabolic Diseases - Outcome of Infants with Hy...
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Hereditary Disorders of Bilirubin Metabolism
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