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You searched for: Journal Journal of inborn errors of metabolism and screening- 616.3904205 24
- Metabolism, Inborn errors of -- Diagnosis -- Periodicals 24
- Metabolism, Inborn errors of -- Periodicals 24
- CLN2 disease -- neuronal ceroid lipofuscinosis type-2 -- Batten disease -- cerliponase alfa -- tripeptidyl peptidase-1 -- enzyme replacement therapy -- intracerebroventricular -- clinician-reported outcome -- Hamburg Motor-Language scale -- psychometric 1
- acetoacetic acid -- 3-hydroxy-n-butyric acid -- acetone -- ketogenesis -- ketolysis -- MCT -- SLC -- organic aciduria -- leucine -- isoleucine 1
- alpha-mannosidosis -- recombinant human alpha-mannosidase -- CHAQ -- EQ-5D-5L -- HRQoL -- disability 1
- classical homocystinuria -- CBS deficiency -- homocysteine -- pyridoxine responsiveness -- diagnosis 1
- inborn errors of metabolism -- biochemical diagnosis -- gas chromatography/mass spectrometry -- spectrophotofluorometry -- screening 1
- inborn errors of metabolism -- quality of life -- children -- family -- questionnaire survey 1
- ketogenesis -- ketone body synthesis -- leucine degradation -- fatty acid metabolism -- organic aciduria -- enzyme activity -- organic acid analysis 1