Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II Get access

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Transferrin and Apolipoprotein C-III Isofocusing Are Complementary in the Diagnosis of N- and O-Glycan Biosynthesis Defects Get access

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Diagnosing Inborn Errors of Lipid Metabolism with Proton Nuclear Magnetic Resonance Spectroscopy Get access

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Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review Get access

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N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism Get access

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Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis Get access

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Hemolytic Uremic Syndrome Attributable to Streptococcus pneumoniae Infection: A Novel Cause for Secondary Protein N-Glycan Abnormalities Get access

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Biochemical and Molecular Genetic Characteristics of the Severe Form of Tyrosine Hydroxylase Deficiency Get access

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Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study Get access

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¹H-NMR Spectroscopy of Body Fluids: Inborn Errors of Purine and Pyrimidine Metabolism Get access

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Biochemical hallmarks of tyrosine hydroxylase deficiency Get access

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Pitfalls in measuring plasma cholesterol in the Smith–Lemli–Opitz syndrome Get access

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In Reply: High-Resolution ¹H-NMR Spectroscopy of Blood Plasma for Metabolic Studies Get access