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Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

Mendelian DisorderBiochemistryGenetic DisorderMedicineGeneticsNatural SciencesMolecular BiologyAmino Acid LevelsHereditary Spastic ParaplegiaCompound Heterozygous MutationsNeuromuscular Pathology