N I Wolf
Affiliation: University of Heidelberg
- Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiencyN I Wolf
Department of Paediatric Neurology, Division of Metabolic Disorders, University Children s Hospital, Heidelberg, Germany
J Inherit Metab Dis 27:291-3. 2004..We present a boy with an unresolved severe neurological disorder and intermittent elevation of 4-HBA in serum and CSF which was later shown to result from iatrogenic administration of 4-HBA for sedation purposes...
- Leukoencephalopathy with ataxia, hypodontia, and hypomyelinationN I Wolf
Department of Pediatric Neurology, University Children s Hospital Heidelberg, Heidelberg, Germany
Neurology 64:1461-4. 2005..Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol...
- Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelinationNicole I Wolf
Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK
Neurogenetics 8:39-44. 2007..In children with nystagmus, ataxia and dysmyelination, mutation analysis of GJA12 should be considered early, especially if inheritance is autosomal recessive...
- Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathyN I Wolf
Department of Paediatric Neurology, University Children s Hospital, Heidelberg, Germany
Neuropediatrics 38:64-70. 2007..With the characteristic tooth abnormalities it should be straightforward to identify new patients in order to facilitate the search for the underlying genetic defect...
- Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSFN I Wolf
Department of Pediatric Neurology, University Children s Hospital Heidelberg, Germany
Neurology 62:1503-8. 2004..The clinical features and MR images of both patients resembled the connatal form of Pelizaeus-Merzbacher disease (PMD), which is an X-linked recessive disorder caused by duplications or mutations of the proteolipid protein gene (PLP)...
- New pattern of brain MRI lesions in isolated complex I deficiencyN I Wolf
Department of Paediatric Neurology, University Children s Hospital Heidelberg, Germany
Neuropediatrics 34:156-9. 2003..By means of biochemical analysis of respiratory chain enzymes in fibroblasts, the diagnosis of an isolated complex I deficiency could be established in our patient...
- T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndromeI Harting
Department of Neuroradiology, University of Heidelberg Medical Centre, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany
Neurology 63:2448-9. 2004
- Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathyG F Hoffmann
Department of General Pediatrics, Ruprecht Karls University Heidelberg, Heidelberg, Germany
J Inherit Metab Dis 30:96-9. 2007..Prompt treatment with PLP in all neonates and infants with epileptic encephalopathy should become mandatory, permitting normal development in at least some of those affected with PNPO deficiency...
- A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brainK Shimomura
University Laboratory of Physiology, Parks Road, Oxford OX1 3PT, UK
Neurology 69:1342-9. 2007..The aim of this study was to determine the clinical effects, functional cause, and sensitivity to sulfonylurea treatment of a novel KCNJ11 mutation producing DEND syndrome...