Autosomal Dominant Optic Atrophy
ADOA – Autosomal Dominant Optic Atrophy ADOA – Autosomal Dominant Optic Atrophy –...
Read moreADOA – Autosomal Dominant Optic Atrophy ADOA – Autosomal Dominant Optic Atrophy –...
Read moreAlpers Disease or Syndrome Long name: Progressive Infantile Poliodystrophy Symptoms: Seizures, dementia, spasticity, blindness, liver...
Read moreBarth Syndrome / LIC (Lethal Infantile Cardiomyopathy) Symptoms: Skeletal myopathy, cardiomyopathy, short stature, and neutropenia Cause:...
Read moreBeta-oxidation Defects See LCAD, LCHAD, MAD, MCAD, SCAD, SCHAD, VLCAD Treatment: High carbohydrate-low fat diet, administration of medium-chain...
Read moreCarnitine-Acyl-Carnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin...
Read moreCarnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine,...
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