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Publications by Eva Morava
Severe Congenital Cutis Laxa With Cardiovascular Manifestations Due to Homozygous Deletions in ALDH18A1
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
Nutrients
Nutrition
Food Science
Dietetics
The Phenotype Modifier: Is the Mitochondrial DNA Background Responsible for Individual Differences in Disease Severity
Journal of Inherited Metabolic Disease
Genetics
International Clinical Guidelines for the Management of Phosphomannomutase 2-Congenital Disorders of Glycosylation: Diagnosis, Treatment and Follow Up
Journal of Inherited Metabolic Disease
Genetics
Guidelines on Homocystinurias and Methylation Defects: A Harmonized Approach to Diagnosis and Management
Journal of Inherited Metabolic Disease
Genetics
3-Methylglutaconic Aciduria—lessons From 50 Genes and 977 Patients
Journal of Inherited Metabolic Disease
Genetics
N-Glycosylation Influences Human Corticosteroid-Binding Globulin Measurements
Endocrine Connections
Internal Medicine
Endocrinology
Metabolism
Diabetes
Leucine Loading Test Is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Functional Consequences of Mitochondrial tRNATrp and tRNAArg Mutations Causing Combined OXPHOS Defects
European Journal of Human Genetics
Genetics
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