{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T03:33:27Z","timestamp":1771472007038,"version":"3.50.1"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2007,6,27]],"date-time":"2007-06-27T00:00:00Z","timestamp":1182902400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"published-print":{"date-parts":[[2007,12]]},"DOI":"10.1186\/1471-2431-7-25","type":"journal-article","created":{"date-parts":[[2007,6,27]],"date-time":"2007-06-27T14:15:16Z","timestamp":1182953716000},"source":"Crossref","is-referenced-by-count":21,"title":["Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study"],"prefix":"10.1186","volume":"7","author":[{"given":"Petter","family":"Stromme","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oivind Juris","family":"Kanavin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Abdelnoor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berit","family":"Woldseth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terje","family":"Rootwelt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorgen","family":"Diderichsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bjorn","family":"Bjurulf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Finn","family":"Sommer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per","family":"Magnus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2007,6,27]]},"reference":[{"key":"161_CR1","first-page":"38","volume":"18","author":"H Davies","year":"1996","unstructured":"Davies H: Living with dying: families coping with a child who has a neurodegenerative genetic disorder. Axone. 1996, 18: 38-44.","journal-title":"Axone"},{"key":"161_CR2","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1046\/j.1365-2648.1997.1997025738.x","volume":"25","author":"AM Gravelle","year":"1997","unstructured":"Gravelle AM: Caring for a child with a progressive illness during the complex chronic phase: parents' experience of facing adversity. J Adv Nurs. 1997, 25: 738-745. 10.1046\/j.1365-2648.1997.1997025738.x.","journal-title":"J Adv Nurs"},{"key":"161_CR3","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1367\/1539-4409(2002)002<0218:TDSDCF>2.0.CO;2","volume":"2","author":"EJ Davidson","year":"2002","unstructured":"Davidson EJ, Silva TJ, Sofis LA, Ganz ML, Palfrey JS: The doctor's dilemma: challenges for the primary care physician caring for the child with special health care needs. Ambul Pediatr. 2002, 2: 218-223. 10.1367\/1539-4409(2002)002<0218:TDSDCF>2.0.CO;2.","journal-title":"Ambul Pediatr"},{"key":"161_CR4","volume-title":"Currr Paediatr","author":"R Surtees","year":"2006","unstructured":"Surtees R: Understanding neurodegenerative disorders. Currr Paediatr. 2006"},{"key":"161_CR5","first-page":"15","volume":"45","author":"JM Lary","year":"1996","unstructured":"Lary JM, Edmonds LD: Prevalence of spina bifida at birth--United States, 1983-1990: a comparison of two surveillance systems. MMWR CDC Surveill Summ. 1996, 45: 15-26.","journal-title":"MMWR CDC Surveill Summ"},{"key":"161_CR6","doi-asserted-by":"publisher","first-page":"726","DOI":"10.1080\/08035250510027336","volume":"94","author":"EK Persson","year":"2005","unstructured":"Persson EK, Hagberg G, Uvebrant P: Hydrocephalus prevalence and outcome in a population-based cohort of children born in 1989-1998. Acta Paediatr. 2005, 94: 726-732. 10.1080\/08035250510027336.","journal-title":"Acta Paediatr"},{"key":"161_CR7","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1111\/j.1651-2227.2005.tb03071.x","volume":"94","author":"K Himmelmann","year":"2005","unstructured":"Himmelmann K, Hagberg G, Beckung E, Hagberg B, Uvebrant P: The changing panorama of cerebral palsy in Sweden. IX. Prevalence and origin in the birth-year period 1995-1998. Acta Paediatr. 2005, 94: 287-294.","journal-title":"Acta Paediatr"},{"key":"161_CR8","doi-asserted-by":"publisher","first-page":"1204","DOI":"10.1542\/peds.110.6.1204","volume":"110","author":"DA Klose","year":"2002","unstructured":"Klose DA, Kolker S, Heinrich B, Prietsch V, Mayatepek E, von KR, Hoffmann GF: Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany. Pediatrics. 2002, 110: 1204-1211. 10.1542\/peds.110.6.1204.","journal-title":"Pediatrics"},{"key":"161_CR9","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1002\/ajmg.a.20314","volume":"123","author":"J Nelson","year":"2003","unstructured":"Nelson J, Crowhurst J, Carey B, Greed L: Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A. 2003, 123: 310-313. 10.1002\/ajmg.a.20314.","journal-title":"Am J Med Genet A"},{"key":"161_CR10","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1038\/sj.ejhg.5201044","volume":"12","author":"R Pinto","year":"2004","unstructured":"Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcao A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sa Miranda MC: Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004, 12: 87-92. 10.1038\/sj.ejhg.5201044.","journal-title":"Eur J Hum Genet"},{"key":"161_CR11","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/S1090-3798(98)80002-0","volume":"2","author":"B Hagberg","year":"1998","unstructured":"Hagberg B: 'Anonymous'--an organization for families of children with undiagnosed brain diseases. Eur J Paediatr Neurol. 1998, 2: 285-286. 10.1016\/S1090-3798(98)80002-0.","journal-title":"Eur J Paediatr Neurol"},{"key":"161_CR12","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1055\/s-2008-1071343","volume":"23","author":"P Uvebrant","year":"1992","unstructured":"Uvebrant P, Lanneskog K, Hagberg B: The epidemiology of progressive encephalopathies in childhood. I. Live birth prevalence in west Sweden. Neuropediatrics. 1992, 23: 209-211.","journal-title":"Neuropediatrics"},{"key":"161_CR13","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1177\/08830738050200081901","volume":"20","author":"B Hagberg","year":"2005","unstructured":"Hagberg B: Rett syndrome: long-term clinical follow-up experiences over four decades. J Child Neurol. 2005, 20: 722-727.","journal-title":"J Child Neurol"},{"key":"161_CR14","volume-title":"Manual of the international statistical classification of diseases, injuries, and causes of death","author":"WH Organization","year":"1967","unstructured":"Organization WH: Manual of the international statistical classification of diseases, injuries, and causes of death. 1967, Geneva"},{"key":"161_CR15","unstructured":"Klassifikasjon av sykdommer, skader og d\u00f8ds\u00e5rsaker: norsk utgave av International Classification of Diseases, ninth revision (ICD-9). 1986, Oslo: Statistisk sentralbyr\u00e5"},{"key":"161_CR16","volume-title":"ICD-10International statistical classification of diseases and related health problems : tenth revision","author":"WH Organization","year":"2004","unstructured":"Organization WH: ICD-10International statistical classification of diseases and related health problems : tenth revision. 2004, Geneva, World Health Organization, 2nd ed,","edition":"2nd ed"},{"key":"161_CR17","first-page":"231","volume-title":"Modern Epidemiology","author":"S Greenland","year":"1998","unstructured":"Greenland S, Rothman DL: Introduction to categorical statistics. Modern Epidemiology. Edited by: Rothman KJ and Greenland S. 1998, Lippincott-Raven, 14: 231-252. 2nd","edition":"2nd"},{"key":"161_CR18","volume-title":"Practical statistics for medical research","author":"DG Altman","year":"2006","unstructured":"Altman DG: Practical statistics for medical research. 2006"},{"key":"161_CR19","doi-asserted-by":"publisher","first-page":"1438","DOI":"10.1093\/brain\/awl107","volume":"129","author":"E Siintola","year":"2006","unstructured":"Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynela J: Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain. 2006, 129: 1438-1445. 10.1093\/brain\/awl107.","journal-title":"Brain"},{"key":"161_CR20","doi-asserted-by":"publisher","first-page":"1095","DOI":"10.1086\/303105","volume":"67","author":"BS Andresen","year":"2000","unstructured":"Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F: Isolated 2-methylbutyrylglycinuria caused by short\/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet. 2000, 67: 1095-1103. 10.1086\/303105.","journal-title":"Am J Hum Genet"},{"key":"161_CR21","volume-title":"Neuroscience","author":"L Kleppa","year":"2006","unstructured":"Kleppa L, Kanavin OJ, Klungland A, Stromme P: A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. 2006"},{"key":"161_CR22","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1002\/ana.20827","volume":"59","author":"OJ Kanavin","year":"2006","unstructured":"Kanavin OJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap MS, Stromme P: Microphthalmia and brain atrophy: a novel neurodegenerative disease. Ann Neurol. 2006, 59: 719-723. 10.1002\/ana.20827.","journal-title":"Ann Neurol"},{"key":"161_CR23","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/ajmg.a.10863","volume":"117","author":"S Rudnik-Schoneborn","year":"2003","unstructured":"Rudnik-Schoneborn S, Sztriha L, Aithala GR, Houge G, Laegreid LM, Seeger J, Huppke M, Wirth B, Zerres K: Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2003, 117: 10-17. 10.1002\/ajmg.a.10863.","journal-title":"Am J Med Genet A"},{"key":"161_CR24","first-page":"1236","volume":"111","author":"P Stromme","year":"1991","unstructured":"Stromme P, Maehlen J, Strom EH, Torvik A: [The carbohydrate deficient glycoprotein syndrome]. Tidsskr Nor Laegeforen. 1991, 111: 1236-1237.","journal-title":"Tidsskr Nor Laegeforen"},{"key":"161_CR25","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1038\/sj.ejhg.5201595","volume":"14","author":"J Chelly","year":"2006","unstructured":"Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T: Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006, 14: 701-713. 10.1038\/sj.ejhg.5201595.","journal-title":"Eur J Hum Genet"},{"key":"161_CR26","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1111\/j.1469-7610.2005.01462.x","volume":"47","author":"MB Posserud","year":"2006","unstructured":"Posserud MB, Lundervold AJ, Gillberg C: Autistic features in a total population of 7-9-year-old children assessed by the ASSQ (Autism Spectrum Screening Questionnaire). J Child Psychol Psychiatry. 2006, 47: 167-175. 10.1111\/j.1469-7610.2005.01462.x.","journal-title":"J Child Psychol Psychiatry"},{"key":"161_CR27","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1067\/mpd.2002.122394","volume":"140","author":"C Dionisi-Vici","year":"2002","unstructured":"Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, Abeni D: Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr. 2002, 140: 321-327. 10.1067\/mpd.2002.122394.","journal-title":"J Pediatr"},{"key":"161_CR28","first-page":"584","volume":"115","author":"RD Pettersen","year":"1995","unstructured":"Pettersen RD, Saugstad OD, Heyerdahl S, Motzfeldt K, Lie SO: [Screening of newborn infants in Norway for severe metabolic disease]. Tidsskr Nor Laegeforen. 1995, 115: 584-587.","journal-title":"Tidsskr Nor Laegeforen"},{"key":"161_CR29","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1002\/ana.75","volume":"49","author":"N Darin","year":"2001","unstructured":"Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M: The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities. Ann Neurol. 2001, 49: 377-383. 10.1002\/ana.75.","journal-title":"Ann Neurol"},{"key":"161_CR30","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1001\/jama.281.3.249","volume":"281","author":"PJ Meikle","year":"1999","unstructured":"Meikle PJ, Hopwood JJ, Clague AE, Carey WF: Prevalence of lysosomal storage disorders. JAMA. 1999, 281: 249-254. 10.1001\/jama.281.3.249.","journal-title":"JAMA"},{"key":"161_CR31","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1007\/s00431-003-1246-3","volume":"163","author":"GF Hoffmann","year":"2004","unstructured":"Hoffmann GF, von KR, Klose D, Lindner M, Schulze A, Muntau AC, Roschinger W, Liebl B, Mayatepek E, Roscher AA: Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr. 2004, 163: 76-80. 10.1007\/s00431-003-1246-3.","journal-title":"Eur J Pediatr"},{"key":"161_CR32","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1023\/B:BOLI.0000028777.38551.5a","volume":"27","author":"CJ Hendriksz","year":"2004","unstructured":"Hendriksz CJ, Corry PC, Wraith JE, Besley GT, Cooper A, Ferrie CD: Juvenile Sandhoff disease--nine new cases and a review of the literature. J Inherit Metab Dis. 2004, 27: 241-249. 10.1023\/B:BOLI.0000028777.38551.5a.","journal-title":"J Inherit Metab Dis"},{"key":"161_CR33","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1055\/s-2005-872810","volume":"36","author":"B Hoffmann","year":"2005","unstructured":"Hoffmann B, Mayatepek E: Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities. Neuropediatrics. 2005, 36: 285-289. 10.1055\/s-2005-872810.","journal-title":"Neuropediatrics"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2431-7-25\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2431-7-25.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2431-7-25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2431-7-25.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T01:19:25Z","timestamp":1548119965000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/1471-2431-7-25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,27]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["161"],"URL":"https:\/\/doi.org\/10.1186\/1471-2431-7-25","relation":{},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,27]]},"article-number":"25"}}