{"id":"https://openalex.org/W2020647822","doi":"https://doi.org/10.1055/s-0028-1093336","title":"MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency andNDUFV1Mutations and Mild Clinical Course","display_name":"MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency andNDUFV1Mutations and Mild Clinical Course","publication_year":2008,"publication_date":"2008-06-01","ids":{"openalex":"https://openalex.org/W2020647822","doi":"https://doi.org/10.1055/s-0028-1093336","mag":"2020647822","pmid":"https://pubmed.ncbi.nlm.nih.gov/18991197"},"language":"en","primary_location":{"id":"doi:10.1055/s-0028-1093336","doi":"https://doi.org/10.1055/s-0028-1093336","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0028-1093336","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061352697","display_name":"Dimitrios Zafeiriou","orcid":"https://orcid.org/0000-0003-2187-9299","observed_orcids":["https://orcid.org/0000-0003-2187-9299"]},"institutions":[{"id":"https://openalex.org/I21370196","display_name":"Aristotle University of Thessaloniki","ror":"https://ror.org/02j61yw88","country_code":"GR","type":"education","lineage":["https://openalex.org/I21370196"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"D. Zafeiriou","raw_affiliation_strings":["Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece. jeff@med.auth.gr","Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece. jeff@med.auth.gr","institution_ids":["https://openalex.org/I21370196"]},{"raw_affiliation_string":"Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece","institution_ids":["https://openalex.org/I21370196"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070618342","display_name":"Richard J. Rodenburg","orcid":"https://orcid.org/0000-0001-5227-3527","observed_orcids":["https://orcid.org/0000-0001-5227-3527"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R. Rodenburg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044263554","display_name":"Hans Scheffer","orcid":"https://orcid.org/0000-0002-2986-0915","observed_orcids":["https://orcid.org/0000-0002-2986-0915"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H. Scheffer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003287268","display_name":"Lambertus P. van den Heuvel","orcid":"https://orcid.org/0000-0003-3917-6727","observed_orcids":["https://orcid.org/0000-0003-3917-6727"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L. Heuvel","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058032050","display_name":"Petra J. W. Pouwels","orcid":"https://orcid.org/0000-0001-8430-0606","observed_orcids":["https://orcid.org/0000-0001-8430-0606"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P. Pouwels","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001392750","display_name":"Athina Ververi","orcid":"https://orcid.org/0000-0002-8393-4444","observed_orcids":["https://orcid.org/0000-0002-8393-4444","https://orcid.org/0009-0004-0974-5006"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Ververi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017691322","display_name":"Fani Athanasiadou\u2010Piperopoulou","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F. Athanasiadou-Piperopoulou","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5064045676","display_name":"Marjo S. van der Knaap","orcid":"https://orcid.org/0000-0001-8912-0954","observed_orcids":["https://orcid.org/0000-0001-8912-0954"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Knaap","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.9806,"has_fulltext":false,"cited_by_count":37,"citation_normalized_percentile":{"value":0.69765383,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"39","issue":"03","first_page":"172","last_page":"175"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.7279999852180481,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.7279999852180481,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.25290000438690186,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.006200000178068876,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/complex-i-deficiency","display_name":"complex I deficiency","score":0.8790000081062317},{"id":"https://openalex.org/keywords/mitochondrial-encephalopathy","display_name":"mitochondrial encephalopathy","score":0.8510000109672546},{"id":"https://openalex.org/keywords/white-matter-rarefaction","display_name":"white matter rarefaction","score":0.6499999761581421},{"id":"https://openalex.org/keywords/periventricular-white-matter-abnormalities","display_name":"periventricular white matter abnormalities","score":0.8349999785423279},{"id":"https://openalex.org/keywords/corpus-callosum-involvement","display_name":"corpus callosum involvement","score":0.8240000009536743},{"id":"https://openalex.org/keywords/lactate-elevation","display_name":"lactate elevation","score":0.8889999985694885},{"id":"https://openalex.org/keywords/lactate-pyruvate-ratio","display_name":"lactate/pyruvate ratio","score":0.8460000157356262},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8029999732971191},{"id":"https://openalex.org/keywords/spastic-diplegia","display_name":"spastic diplegia","score":0.8740000128746033},{"id":"https://openalex.org/keywords/motor-regression","display_name":"motor regression","score":0.6890000104904175}],"concepts":[{"id":"https://openalex.org/C2781192897","wikidata":"https://www.wikidata.org/wiki/Q822050","display_name":"White matter","level":3,"score":0.8221676349639893},{"id":"https://openalex.org/C2778183499","wikidata":"https://www.wikidata.org/wiki/Q223851","display_name":"Corpus callosum","level":2,"score":0.6900712251663208},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6786595582962036},{"id":"https://openalex.org/C2778583010","wikidata":"https://www.wikidata.org/wiki/Q3237081","display_name":"Leukoencephalopathy","level":3,"score":0.6692618131637573},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.6633214354515076},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5666333436965942},{"id":"https://openalex.org/C2775833069","wikidata":"https://www.wikidata.org/wiki/Q6881881","display_name":"Mitochondrial myopathy","level":4,"score":0.5039040446281433},{"id":"https://openalex.org/C103191249","wikidata":"https://www.wikidata.org/wiki/Q624073","display_name":"In vivo magnetic resonance spectroscopy","level":3,"score":0.4442327618598938},{"id":"https://openalex.org/C2776643646","wikidata":"https://www.wikidata.org/wiki/Q223851","display_name":"Splenium","level":4,"score":0.4349213242530823},{"id":"https://openalex.org/C2779636300","wikidata":"https://www.wikidata.org/wiki/Q3029045","display_name":"Spastic diplegia","level":3,"score":0.41921114921569824},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4141346216201782},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.2267824411392212},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.15402710437774658},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.10973045229911804},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.09199002385139465},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.07173192501068115},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C2779421357","wikidata":"https://www.wikidata.org/wiki/Q210427","display_name":"Cerebral palsy","level":2,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001928","descriptor_name":"Brain Diseases, Metabolic","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009245","descriptor_name":"NADH Dehydrogenase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D009245","descriptor_name":"NADH Dehydrogenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009682","descriptor_name":"Magnetic Resonance Spectroscopy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D028361","descriptor_name":"Mitochondrial Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D042967","descriptor_name":"Electron Transport Complex I","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D042967","descriptor_name":"Electron Transport Complex I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":9,"locations":[{"id":"doi:10.1055/s-0028-1093336","doi":"https://doi.org/10.1055/s-0028-1093336","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0028-1093336","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"},{"id":"pmid:18991197","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18991197","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"Case Reports"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/638ebd02-c94e-4d40-adb6-94f39a163d3f","doi":null,"is_oa":false,"landing_page_url":"https://research.vumc.nl/en/publications/638ebd02-c94e-4d40-adb6-94f39a163d3f","pdf_url":null,"source":{"id":"https://openalex.org/S7407055350","display_name":"Amsterdam UMC (VU Amsterdam) - Institutional Repository","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zafeiriou, D I, Rodenburg, R J T, Scheffer, H, van den Heuvel, L P, Pouwels, P J W, Ververi, A & van der Knaap, M S 2008, 'MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course', Neuropediatrics, vol. 39, no. 3, pp. 172-175. https://doi.org/10.1055/s-0028-1093336","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:research.vu.nl:openaire_cris_publications/9cf736b0-6f85-4ae9-a8c5-d6e60092ecd0","doi":null,"is_oa":false,"landing_page_url":"https://research.vu.nl/en/publications/9cf736b0-6f85-4ae9-a8c5-d6e60092ecd0","pdf_url":null,"source":{"id":"https://openalex.org/S4306401107","display_name":"VU Research Portal","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I865915315","host_organization_name":"Vrije Universiteit Amsterdam","host_organization_lineage":["https://openalex.org/I865915315"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zafeiriou, D I, Rodenburg, R J T, Scheffer, H, van den Heuvel, L P, Pouwels, P J W, Ververi, A & van der Knaap, M S 2008, 'MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course', Neuropediatrics, vol. 39, no. 3, pp. 172-175. https://doi.org/10.1055/s-0028-1093336","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/a763c28d-281d-4676-a798-7bca799e09ed","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/mr-spectroscopy-and-serial-magnetic-resonance-imaging-in-a-patient-with-mitochondrial-cystic-leukoencephalopathy-due-to-complex-i-deficiency-and-ndufv1-mutations-and-mild-clinical-course(a763c28d-281d-4676-a798-7bca799e09ed).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Neuropediatrics, 39(3), 172 - 175. Hippokrates Verlag GmbH","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/69087","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/69087","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Neuropediatrics, 39, 3, pp. 172-5","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/69087","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/69087","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Neuropediatrics, 39, 172 - 5","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:vu:oai:research.vu.nl:publications/9cf736b0-6f85-4ae9-a8c5-d6e60092ecd0","doi":null,"is_oa":false,"landing_page_url":"https://research.vu.nl/en/publications/9cf736b0-6f85-4ae9-a8c5-d6e60092ecd0","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Neuropediatrics, 39(3), 172 - 175. Hippokrates Verlag GmbH","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:vumc:oai:pure.atira.dk:publications/638ebd02-c94e-4d40-adb6-94f39a163d3f","doi":null,"is_oa":false,"landing_page_url":"https://research.vumc.nl/en/publications/638ebd02-c94e-4d40-adb6-94f39a163d3f","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Neuropediatrics, 39(3), 172 - 175. Hippokrates Verlag GmbH","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.979200005531311,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2061806518","https://openalex.org/W1988723639","https://openalex.org/W2018967195","https://openalex.org/W2411293408","https://openalex.org/W2077956830","https://openalex.org/W4303473141","https://openalex.org/W2103210312","https://openalex.org/W4385792103","https://openalex.org/W2342962612","https://openalex.org/W1553473077"],"abstract_inverted_index":{"We":[0],"present":[1],"clinical,":[2],"magnetic":[3],"resonance":[4,34],"imaging":[5,35],"and":[6,27,57,71,74,100,119,122,138,193],"MR":[7,89],"spectroscopic":[8],"findings":[9],"of":[10,19,24,29,44,55,62,77,108,135,145,157,167],"a":[11,198],"female":[12],"patient,":[13],"first":[14],"admitted":[15],"at":[16,52],"the":[17,45,53,63,78,82,95,146,168],"age":[18],"9":[20],"months":[21],"for":[22,152],"regression":[23],"motor":[25,178],"milestones":[26],"signs":[28],"mild":[30,133],"spastic":[31],"diplegia.":[32],"Magnetic":[33],"(MRI)":[36],"demonstrated":[37,60],"periventricular":[38],"white":[39,47,64,68,84,96,183],"matter":[40,65,69,85,184],"abnormalities":[41],"with":[42,190,197],"sparing":[43],"subcortical":[46,83],"matter.":[48,97],"Subsequent":[49,106],"MRIs,":[50],"performed":[51],"ages":[54],"13":[56],"16":[58],"months,":[59],"progression":[61],"changes,":[66],"progressive":[67],"rarefaction":[70],"cystic":[72],"degeneration,":[73],"additional":[75],"involvement":[76],"corpus":[79],"callosum;":[80],"only":[81],"remained":[86],"spared.":[87],"Proton":[88],"spectroscopy":[90],"revealed":[91,149],"lactate":[92,99],"elevation":[93],"in":[94,111,116,120],"Blood":[98],"lactate/pyruvate":[101],"ratio":[102],"were":[103,141],"mildly":[104],"elevated.":[105],"analysis":[107],"mitochondrial":[109,191],"function":[110],"muscle":[112],"tissue":[113],"showed":[114],"decreases":[115,134],"substrate":[117],"oxidation":[118],"ATP":[121],"CrP":[123],"production":[124],"rates.":[125],"Complex":[126],"I":[127],"activity":[128],"was":[129,170],"seriously":[130],"decreased,":[131],"whereas":[132],"complex":[136],"II":[137],"IV":[139],"activities":[140],"also":[142],"noted.":[143],"Analysis":[144],"NDUFV1":[147],"gene":[148],"compound":[150],"heterozygosity":[151],"two":[153],"point":[154],"mutations,":[155],"each":[156],"them":[158],"carried":[159],"by":[160],"one":[161],"parent.":[162],"The":[163],"further":[164],"clinical":[165,200],"course":[166],"patient":[169],"uphill;":[171],"she":[172],"slowly":[173],"regained":[174],"all":[175],"previously":[176],"lost":[177],"milestones.":[179],"In":[180],"conclusion,":[181],"diffuse":[182],"changes":[185],"on":[186],"MRI":[187],"are":[188],"compatible":[189],"encephalopathy":[192],"not":[194],"necessarily":[195],"associated":[196],"severe":[199],"course.":[201]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":7}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
