20 results on '"Distelmaier, F"'
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2. Spezialisierte ambulante Palliativversorgung (SAPV) von Kindern mit schweren, irreversiblen, nicht progredienten Erkrankungen der TfSL (Together for Short Lives) Gruppe 4
3. Reversible Epileptic Encephalopathy upon Uridine Treatment in Patients with CAD Mutations
4. Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency
5. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
6. Rare Causes of Childhood Stroke: A Single-Center Experience
7. Trichothiodystrophy Presenting with Cardiomyopathy and Recurrent Stroke Episodes
8. Granulocyte Colony Stimulating Factor for Treatment of Neutropenia-associated Infection in Pearson Syndrome
9. Seltene Erkrankungen mit symmetrischer Beteiligung der Basalganglien
10. Transient ischemic attack in a 5-year-old girl due to focal vasculitis in neuroborreliosis
11. Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome
12. Recurrent fever episodes after treatment of a subdural empyema: persisting infection or autoimmunological reaction?
13. Pseudotumor Cerebri in Childhood and Adolescence - Results of a Germany-wide ESPED-survey
14. Sudden bilateral sensorineural deafness in a 5 years old girl with blue sclerae, keratoconus, hypermobility of the joints and hyperelasticity of the skin with a mutation in the ZNF469 gene encoding for Brittle-Cornea-Syndrome
15. Sedation of Children during Measurement of CSF Opening Pressure: Lack of Standardisation in German Children with Pseudotumor Cerebri
16. How do we sedate children undergoing CSF opening pressure measurement? Results of a Germany-wide survey
17. Fatal Hypertensive Crisis as Presentation of Mitochondrial Complex I Deficiency
18. Seasonal clustering of prepubertal idiopathic intracranial hypertension
19. Antiepileptic Treatment in Paediatric Oncology - An Interdisciplinary Challenge
20. Isoniazid intoxication clinically mimicking encephalitis with status epilepticus
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