1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.20702</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Clinical and biochemical spectrum of D-bifunctional protein deficiency Publisher An entity responsible for making the resource available Annals Of Neurology Date A point or period of time associated with an event in the lifecycle of the resource 2006 Subject The topic of the resource Child; Humans; Cohort Studies; Questionnaires; Longitudinal Studies; Magnetic Resonance Imaging; Preschool; infant; Lipid Metabolism; 3-Hydroxyacyl CoA Dehydrogenases/deficiency; Blood Chemical Analysis; Bone and Bones/anatomy & histology/pathology; Brain/anatomy & histology/pathology; Enoyl-CoA Hydratase/deficiency; Fibroblasts/cytology/metabolism; Inborn Errors; Isomerases/deficiency; Kidney/anatomy & histology/pathology; Life Expectancy; Liver/anatomy & histology/pathology; Multienzyme Complexes/deficiency; Peroxisomal Disorders/classification/pathology/physiopathology Creator An entity primarily responsible for making the resource Ferdinandusse S; Denis S; Mooyer PA; Dekker C; Duran M; Soorani-Lunsing RJ; Boltshauser E; Macaya A; Gartner J; Majoie CB; Barth PG; Wanders RJ; Poll-The BT Description An account of the resource OBJECTIVE: D-bifunctional protein deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. Although case reports and small series of patients have been published, these do not give a complete and balanced picture of the clinical and biochemical spectrum associated with this disorder. METHODS: To improve early recognition, diagnosis, prognosis, and management of this disorder and to provide markers for life expectancy, we performed extensive biochemical studies in a large cohort of D-bifunctional protein-deficient patients and sent out questionnaires about clinical signs and symptoms to the responsible physicians. RESULTS: Virtually all children presented with neonatal hypotonia and seizures and died within the first 2 years of life without achieving any developmental milestones. However, within our cohort, 12 patients survived beyond the age of 2 years, and detailed information on 5 patients with prolonged survival (> or =7.5 years) is provided. INTERPRETATION: Biochemical analyses showed that there is a clear correlation between several biochemical parameters and survival of the patient, with C26:0 beta-oxidation activity in cultured skin fibroblasts being the best predictive marker for life expectancy. Remarkably, three patients were identified without biochemical abnormalities in plasma, stressing that D-bifunctional protein deficiency cannot be excluded when all peroxisomal parameters in plasma are normal. 2006 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">10.1002/ana.20702</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2006 3-Hydroxyacyl CoA Dehydrogenases/deficiency Annals Of Neurology Backlog Barth PG Blood Chemical Analysis Boltshauser E Bone and Bones/anatomy & histology/pathology Brain/anatomy & histology/pathology Child Cohort Studies Dekker C Denis S Duran M Enoyl-CoA Hydratase/deficiency Ferdinandusse S Fibroblasts/cytology/metabolism Gartner J Humans Inborn Errors Infant Isomerases/deficiency Journal Article Kidney/anatomy & histology/pathology Life Expectancy Lipid Metabolism Liver/anatomy & histology/pathology Longitudinal Studies Macaya A Magnetic Resonance Imaging Majoie CB Mooyer PA Multienzyme Complexes/deficiency Peroxisomal Disorders/classification/pathology/physiopathology Poll-The BT Preschool Questionnaires Soorani-Lunsing RJ Wanders RJ