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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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Alkaptonuria is a rare inherited genetic disorder
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Adrenoleukodystrophy (ALD) is a disease linked...
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MENDELIAN GENETICS AND HUMANS
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MTHFR treatment with B12 methylfolate
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What's the Big Deal About Methylation?
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What is an MTHFR gene mutation?
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Abetalipoproteinemia - Mutation in Microsomal T...
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Alkaptonuria is a rare inherited genetic disord...
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MTHFR stands for methylenetetrahydrofolate redu...
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Making Sense of MTHFR Polymorphisms
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Classical / Most common Galactosemia
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Peroxisomal disorders represent a class of medi...
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Fabry disease is a rare genetic disorder
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Acute intermittent porphyria is the second most...
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Fabry disease is a rare genetic disorder that p...
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Niemann–Pick disease is a group of severe inher...
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McArdle disease is a rare muscle disorder
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Acute Intermittent Porphyria (AIP) is a rare me...
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Refeeding syndrome can be defined as the potent...
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Refeeding syndrome can be defined as the potent...
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Phenylketonuria (PKU) is an inborn error of met...
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Vitamin B12 deficiency causes reversible megalo...
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Enzyme replacement therapy is a medical treatm...
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Glycogen storage diseases s a metabolic disorde...
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4Ds of Pallegra
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Dystrophin is a rod-shaped cytoplasmic protein
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Tay Sachs disease is a rare autosomal recessive...
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Metabolic Diseases - Outcome of Infants with Hy...
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Hereditary Disorders of Bilirubin Metabolism
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