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1. Entrustable professional activities in post-licensure training in primary care pediatrics: Necessity, development and implementation of a competency-based post-graduate curriculum

2. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

4. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

7. Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

8. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

9. Disorders of Monoamine Metabolism

10. aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

13. The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

14. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

16. Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec: Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)

17. Erratum zu: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec. Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)

18. Monogenic variants in dystonia: an exome-wide sequencing study

20. Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.

22. Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up.

23. Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1

24. One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

26. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

28. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

31. Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

32. Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up

33. Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.

37. The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

38. PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY

39. Neurotransmitter Disorders

41. The presence and severity of epilepsy coincide with reduced GABA and cortical excitatory markers in SSADH deficiency

43. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

45. aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

47. Folates

48. Molecular and clinical spectra of FBXL4 deficiency

49. Sprachliche Auffälligkeiten bei Succinat-Semialdehyd-Dehydrogenase-Mangel - die Untersuchung der Sprache bei drei von SSADHD betroffenen Personen.

50. Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

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