578 results on '"Plecko, Barbara"'
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2. Disorders of Thiamine and Pyridoxine Metabolism
3. Vitamin B6-Dependent and Vitamin B6-Responsive Disorders
4. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia
5. Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis
6. Stoffwechselbedingte Myopathien
7. Vitaminresponsive Enzephalopathien
8. Abklärung der akuten Bewusstseinsstörung bei Säuglingen, Kindern und Jugendlichen
9. Monogenic variants in dystonia: an exome-wide sequencing study
10. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
11. Querkraft – Cross-Force – Art as Education. Transversal Practices Versus Economic Rationalization
12. Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
13. Efficacy of a standardized tube weaning program in pediatric patients with feeding difficulties after successful repair of their esophageal atresia/tracheoesophageal fistula
14. A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
15. PROVOCATIVE COMMUNITIES
16. Vitaminresponsive Enzephalopathien
17. Stoffwechselbedingte Myopathien
18. A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
19. The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease
20. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
21. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
22. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
23. Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication
24. Disorders of Thiamine and Pyridoxine Metabolism
25. Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/ PLPHP Deficiency.
26. Vitaminresponsive Enzephalopathien bei Kindern und Jugendlichen
27. Querkraft – Cross-Force – Art as Education. Transversal Practices Versus Economic Rationalization
28. Stoffwechselbedingte Myopathien bei Kindern und Jugendlichen
29. FRIEDEN ALS VORSTELLUNG UND WIRKLICHKEIT
30. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
31. Provocation as a Constructive Element in the Arts and in Education to Foster Societal Development and Innovation: Experience and Knowledge as Forms of Social Relations
32. Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy
33. Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases
34. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
35. Stoffwechselmyopathien und endokrine Myopathien
36. Neurometabolische und neurodegenerative Erkrankungen
37. Vitamin B6-Dependent and Responsive Disorders
38. Severe Congenital Heart Defects Are Associated with Global Reduction of Neonatal Brain Volumes
39. Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
40. On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies.
41. Infantile spasms without hypsarrhythmia and paroxysmal eye-head movements in an infant with a pyridoxine dependent epilepsy due to PLPBP/PLPHP deficiency
42. Confirmation of a Causal Role for SHQ1 Variants in Early Infantile‐Onset Recessive Dystonia
43. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
44. Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy
45. Infantile spasms without hypsarrhythmia and paroxysmal eye-head movements in an infant with a pyridoxine dependent epilepsy due to PLPBP/PLPHP deficiency
46. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
47. Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype
48. Windbreaker Research 1:1
49. Beyond Territories–Transversal Practices
50. Disorders of Vitamin Metabolism
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