16 results on '"Scholl-Buergi, Sabine"'
Search Results
2. Altered gut microbiome diversity and function in patients with propionic acidemia
3. Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism
4. Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria
5. Galactokinase deficiency: lessons from the GalNet registry
6. The Genetic Landscape and Epidemiology of Phenylketonuria
7. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
8. The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders
9. The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
10. Simultaneous measurement of phenylalanine and tyrosine by high performance liquid chromatography (HPLC) with fluorescence detection
11. Adrenocorticotropic Hormone versus Pulsatile Dexamethasone in the Treatment of Infantile Epilepsy Syndromes
12. Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
13. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
14. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
15. Abdominal Pain and Constipation
16. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T > C, p.M226T; c.1112C > T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.