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Publications by Martina Huemer

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

Three New Cases of Late-Onset cblC Defect and Review of the Literature Illustrating When to Consider Inborn Errors of Metabolism Beyond Infancy

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2014English

Extent, Impact, and Predictors of Diagnostic Delay in Pompe Disease: A Combined Survey Approach to Unveil the Diagnostic Odyssey

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2019English

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