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Publications by Matthias R. Baumgartner

Early Prediction of Phenotypic Severity in Citrullinemia Type 1

Annals of Clinical and Translational Neurology
NeuroscienceNeurology
2019English

Clinical or ATPase Domain Mutations in ABCD4 Disrupt the Interaction Between the Vitamin B12-Trafficking Proteins ABCD4 and LMBD1

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
2017English

Vitamin B12 , Folate, and the Methionine Remethylation Cycle-Biochemistry, Pathways, and Regulation

Journal of Inherited Metabolic Disease
Genetics
2019English

Postprandial Changes of Amino Acid and Acylcarnitine Concentrations in Dried Blood Samples

Journal of Inherited Metabolic Disease
Genetics
2010English

Newborn Screening for Homocystinurias: Recent Recommendations Versus Current Practice

Journal of Inherited Metabolic Disease
Genetics
2019English

Reducing Complexity: Explaining Inborn Errors of Metabolism and Their Treatment to Children and Adolescents

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2019English

Networking Across Borders for Individuals With Organic Acidurias and Urea Cycle Disorders: The E-Imd Consortium

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

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