Felix Distelmaier

Summary

Affiliation: Heinrich Heine University
Country: Germany

Publications

  1. ncbi request reprint Pseudotumor cerebri as an important differential diagnosis of papilledema in children
    Felix Distelmaier
    Department of General Pediatrics, Heinrich Heine University Dusseldorf, Moorenstr 5, D 40225 Dusseldorf, Germany
    Brain Dev 28:190-5. 2006
  2. ncbi request reprint Cystic renal dysplasia as a leading sign of inherited metabolic disease
    Felix Distelmaier
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Moorenstrasse 5, 40225, Dusseldorf, Germany
    Pediatr Nephrol 22:2119-24. 2007
  3. ncbi request reprint Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up
    Felix Distelmaier
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Childs Nerv Syst 23:343-7. 2007
  4. doi request reprint Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans
    Daniela van den Ecker
    Department of General Pediatrics and Neonatology, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Mitochondrion 12:399-405. 2012
  5. doi request reprint Clinical spectrum of the pseudotumor cerebri complex in children
    Daniel Tibussek
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225, Dusseldorf, Germany
    Childs Nerv Syst 26:313-21. 2010
  6. doi request reprint EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum
    Katharina Danhauser
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225, Dusseldorf, Germany
    Metab Brain Dis 31:717-21. 2016
  7. doi request reprint MICS-1 interacts with mitochondrial ATAD-3 and modulates lifespan in C. elegans
    Michael Hoffmann
    Department of General Pediatrics and Neonatology, University Children s Hospital, Heinrich Heine University, D 40225 Dusseldorf, Germany
    Exp Gerontol 47:270-5. 2012
  8. ncbi request reprint Neonatal encephalocardiomyopathy caused by mutations in VARS2
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital Duesseldorf, Heinrich Heine University, Moorenstr 5, 40225, Dusseldorf, Germany
    Metab Brain Dis . 2016
  9. ncbi request reprint The many faces of paediatric mitochondrial disease on neuroimaging
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225, Dusseldorf, Germany
    Childs Nerv Syst 32:2077-2083. 2016
  10. doi request reprint MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University Duesseldorf, Moorenstr 5, 40225, Duesseldorf, Germany
    Neurogenetics 16:237-40. 2015

Collaborators

Detail Information

Publications34

  1. ncbi request reprint Pseudotumor cerebri as an important differential diagnosis of papilledema in children
    Felix Distelmaier
    Department of General Pediatrics, Heinrich Heine University Dusseldorf, Moorenstr 5, D 40225 Dusseldorf, Germany
    Brain Dev 28:190-5. 2006
    ..Visual loss is a serious complication, which requires careful monitoring and management...
  2. ncbi request reprint Cystic renal dysplasia as a leading sign of inherited metabolic disease
    Felix Distelmaier
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Moorenstrasse 5, 40225, Dusseldorf, Germany
    Pediatr Nephrol 22:2119-24. 2007
    ..This knowledge should prompt careful observation and, where necessary, early intervention during the postnatal period of catabolism...
  3. ncbi request reprint Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up
    Felix Distelmaier
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Childs Nerv Syst 23:343-7. 2007
    ..Although the majority of NF1 patients are only mildly affected, the risk of developing malignancies is significantly increased in this population...
  4. doi request reprint Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans
    Daniela van den Ecker
    Department of General Pediatrics and Neonatology, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Mitochondrion 12:399-405. 2012
    ..Our results suggest that mitochondrial complex I biogenesis is evolutionarily conserved. Moreover, Caenorhabditis elegans appears to be a promising model organism to study assembly factor related human diseases...
  5. doi request reprint Clinical spectrum of the pseudotumor cerebri complex in children
    Daniel Tibussek
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225, Dusseldorf, Germany
    Childs Nerv Syst 26:313-21. 2010
    ..Our aim was to improve diagnosis and management of pseudotumor cerebri (PTC; also known as idiopathic intracranial hypertension) in children...
  6. doi request reprint EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum
    Katharina Danhauser
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225, Dusseldorf, Germany
    Metab Brain Dis 31:717-21. 2016
    ....
  7. doi request reprint MICS-1 interacts with mitochondrial ATAD-3 and modulates lifespan in C. elegans
    Michael Hoffmann
    Department of General Pediatrics and Neonatology, University Children s Hospital, Heinrich Heine University, D 40225 Dusseldorf, Germany
    Exp Gerontol 47:270-5. 2012
    ..This suggests (partially) independent effects of MICS-1 and ATAD-3 on lifespan and ROS production in vivo...
  8. ncbi request reprint Neonatal encephalocardiomyopathy caused by mutations in VARS2
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital Duesseldorf, Heinrich Heine University, Moorenstr 5, 40225, Dusseldorf, Germany
    Metab Brain Dis . 2016
    ..Our report expands the phenotypic spectrum associated with this rare mitochondrial defect, in that VARS2 deficiency may also cause severe neonatal presentations with cardiac involvement and structural brain abnormalities...
  9. ncbi request reprint The many faces of paediatric mitochondrial disease on neuroimaging
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225, Dusseldorf, Germany
    Childs Nerv Syst 32:2077-2083. 2016
    ..We highlight that, although some imaging patterns can be suggestive of a genetically defined mitochondrial syndrome, brain MRI-based candidate gene prioritization is only successful in a subset of patients...
  10. doi request reprint MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University Duesseldorf, Moorenstr 5, 40225, Duesseldorf, Germany
    Neurogenetics 16:237-40. 2015
    ..Our report expands the clinical spectrum of this rare mitochondrial disorder and confirms the severe clinical phenotype associated with this defect. ..
  11. doi request reprint MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy
    Felix Distelmaier
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University Dusseldorf, Moorenstr 5, 40225, Dusseldorf, Germany
    Neurogenetics 16:319-23. 2015
    ..Of note, neurological and neuro-ophthalmological impairment seems to be a disease feature of the second and third decades of life, which should be taken into account in patient management and counseling. ..
  12. ncbi request reprint Secondary pseudotumor cerebri in pediatric oncology and hematology: an unpredictable condition of varying etiology
    Felix Distelmaier
    Department of General Pediatrics, Heinrich Heine University Dusseldorf, Moorenstrasse 5, Dusseldorf, Germany
    Pediatr Blood Cancer 49:1029-33. 2007
    ..Our study highlights the clinical features, contributing factors, and treatment options of this syndrome in children...
  13. ncbi request reprint Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay
    Felix Distelmaier
    Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    J Neurooncol 79:197-201. 2006
    ..We discuss the importance of tumor multifocality and the role of patient age in the clinical presentation with reference to the literature...
  14. doi request reprint Caenorhabditis elegans ATAD-3 modulates mitochondrial iron and heme homeostasis
    Daniela van den Ecker
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University, Moorenstr 5, 40225 Dusseldorf, Germany
    Biochem Biophys Res Commun 467:389-94. 2015
    ..In conclusion, our data indicate a regulatory role of C. elegans ATAD-3 in mitochondrial iron and heme metabolism. ..
  15. doi request reprint A guide to diagnosis and treatment of Leigh syndrome
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    J Neurol Neurosurg Psychiatry 85:257-65. 2014
    ..To date, there is no cure for affected patients, and treatment options are mostly unsatisfactory. Here, we review the most important clinical aspects of Leigh syndrome, and discuss diagnostic steps as well as treatment options. ..
  16. doi request reprint Blue native electrophoresis to study mitochondrial complex I in C. elegans
    Daniela van den Ecker
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    Anal Biochem 407:287-9. 2010
    ..Moreover, we present the first complex I assembly profile for C. elegans, obtained by two-dimensional BN/SDS-PAGE...
  17. pmc Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome
    Felix Distelmaier
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University, Moorenstr 5, D 40225, Dusseldorf, Germany
    JIMD Rep 13:53-7. 2014
    ....
  18. pmc Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9
    Katharina Danhauser
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
    Eur J Hum Genet 24:450-4. 2016
    ..Moreover, the rescue of cellular CoQ10 levels and respiratory chain complex activities by CoQ10 supplementation points to the importance of an early diagnosis and immediate treatment. ..
  19. doi request reprint Hypertrichosis in presymptomatic mitochondrial disease
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University, Moorenstr 5, 40225, Dusseldorf, Germany
    J Inherit Metab Dis 36:1081-2. 2013
    ..We conclude that, if Leigh syndrome is suspected, the presence of characteristic hypertrichosis should prompt SURF1 mutation analysis. ..
  20. ncbi request reprint "How much brain is really necessary?" A case of complex cerebral malformation and its clinical course
    Felix Distelmaier
    Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    J Child Neurol 22:756-60. 2007
    ..This case illustrates that the morphological classification of cerebral malformations does not allow one to predict with certainty whether a child will develop impaired motor and/or higher cognitive functions...
  21. doi request reprint Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease
    Felix Distelmaier
    Department of Membrane Biochemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Brain 132:833-42. 2009
    ....
  22. doi request reprint Probable pseudotumor cerebri complex in 25 children. Further support of a concept
    Daniel Tibussek
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University, Moorenstrasse 5, 40225 Dusseldorf, Germany Electronic address
    Eur J Paediatr Neurol . 2016
    ..However, it has been proposed that a diagnosis of "probable" PTCS can be made with an OP < 28 cm H2O if other diagnostic criteria are met. We report a group of children with probable PTCS...
  23. doi request reprint Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease
    Katharina Danhauser
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University, Moorenstr 5, D 40225, Dusseldorf, Germany
    J Inherit Metab Dis 38:467-75. 2015
    ....
  24. doi request reprint Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy
    Fabian Baertling
    Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, GA Nijmegen, The Netherlands Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University Duesseldorf, Duesseldorf, Germany
    Hum Mutat 36:34-8. 2015
    ..We conclude that COA6 is required for complex IV subunit stability. Furthermore, the proposed role in the copper delivery pathway to complex IV subunits is substantiated and a therapeutic lead for COA6-deficient patients is provided. ..
  25. ncbi request reprint Ovarian small cell carcinoma of the hypercalcemic type in children and adolescents: a prognostically unfavorable but curable disease
    Felix Distelmaier
    Clinic of Pediatric Oncology, Hematology, and Immunology, Heinrich Heine University, Duesseldorf, Germany
    Cancer 107:2298-306. 2006
    ..The objective of the current study was to investigate the clinicopathologic features of this tumor and to develop preliminary diagnostic and therapeutic guidelines...
  26. doi request reprint Malonic aciduria: long-term follow-up of new patients detected by newborn screening
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital Duesseldorf, Heinrich Heine University, Moorenstr 5, 40225, Duesseldorf, Germany
    Eur J Pediatr 173:1719-22. 2014
    ..Therefore, confirmatory tests following a positive newborn screening should be taken with caution and include both malonyl carnitine detection in dried blood spots and urinary organic acid analysis as initial measures...
  27. doi request reprint Teaching NeuroImages: Rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency
    Fabian Baertling
    From the Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital F B, E M, F D, and Department of Diagnostic and Interventional Radiology J S, Heinrich Heine University, Dusseldorf, Germany
    Neurology 81:e10-1. 2013
    ..Of note, leukoencephalopathy is uncommon in mitochondrial complex I mutations but may be a feature of NDUFS1 defects.(2.) ..
  28. doi request reprint Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome
    Fabian Baertling
    Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Geert Grooteplein zuid 10, 6525 GA Nijmegen, The Netherlands Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital Duesseldorf, Heinrich Heine University, Moorenstr 5, 40225 Dusseldorf, Germany Electronic address
    Mol Genet Metab . 2016
    ..Therefore, our report expands the phenotype of NDUFAF3 deficiency and further characterizes the role of NDUFAF3 in complex I biogenesis...
  29. doi request reprint Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
    Christian Staufner
    Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, 69120, Heidelberg, Germany
    J Inherit Metab Dis 39:3-16. 2016
    ..Recently biallelic mutations in NBAS were identified as a new molecular cause of ALF with onset in infancy, leading to recurrent acute liver failure (RALF)...
  30. doi request reprint Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α
    Felix Distelmaier
    Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University, 40225 Dusseldorf, Germany
    Biochim Biophys Acta 1852:529-40. 2015
    ..This response avoids cell death by suppressing energy crisis, oxidative stress induction and substantial mitochondrial depolarization. ..
  31. pmc C. elegans ATAD-3 is essential for mitochondrial activity and development
    Michael Hoffmann
    Department of General Pediatrics, University Children s Hospital, Heinrich Heine University, Dusseldorf, Germany
    PLoS ONE 4:e7644. 2009
    ..Mammalian ATAD3 is a mitochondrial protein, which is thought to play an important role in nucleoid organization. However, its exact function is still unresolved...
  32. ncbi request reprint Status epilepticus due to attempted suicide with isoniazid
    Daniel Tibussek
    Department of General Paediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Eur J Pediatr 165:136-7. 2006
  33. doi request reprint Probable idiopathic intracranial hypertension in pre-pubertal children
    Felix Distelmaier
    Arch Dis Child 93:356-7. 2008
  34. ncbi request reprint Beta-ureidopropionase deficiency presenting with febrile status epilepticus
    Birgit E Assmann
    Epilepsia 47:215-7. 2006
    ..At that time the patient showed severe psychomotor retardation with muscular hypotonia, extremely limited visual contact and poorly controlled epilepsy...