Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation. [PDF]
Cook A +14 more
europepmc +1 more source
Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]
Couce ML, Vitoria I.
europepmc +1 more source
RPLC- and HILIC-based non-targeted metabolomics workflow for blood microsamples. [PDF]
Couacault P, Witting M.
europepmc +1 more source
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation. [PDF]
Vasco A +17 more
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Blood Based Vascular Marker Responses to Ocufolin<sup>®</sup> in Diabetic Retinopathy Patients Carrying MTHFR Polymorphisms. [PDF]
Wang J +6 more
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Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]
Hergenrother S +4 more
europepmc +1 more source
Case Report: Neonatal-onset chylomicron retention disease presenting as isolated failure to thrive with compound heterozygous <i>SAR1B</i> variants: the value of early genetic testing and challenges of long-term management. [PDF]
Liu B, Zhang C.
europepmc +1 more source

