{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:03:51Z","timestamp":1790550231341,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T00:00:00Z","timestamp":1499385600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T00:00:00Z","timestamp":1499385600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Van Leersumfonds, Koninklijke Nederlandse Akademie van Wetenschappen","award":["VLF2013277"],"award-info":[{"award-number":["VLF2013277"]}]},{"DOI":"10.13039\/501100000245","name":"Michael Smith Foundation for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000245","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ESN","award":["ESN stimulatie beurs"],"award-info":[{"award-number":["ESN stimulatie beurs"]}]},{"name":"Internal Funding from the Children\u2019s Memorial Health Institute","award":["S136\/13"],"award-info":[{"award-number":["S136\/13"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3\u2010methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected to patients with virtual absence of development. Muscular hypo\u2010 and hypertonia, movement disorder and progressive brain atrophy are frequently reported. We present the foetal, peri\u2010 and neonatal features of 31 patients, of which five are previously unreported, using a newly developed clinical severity scoring system rating the clinical, metabolic, imaging and other findings weighted by the age of onset. Our data are illustrated by foetal and neonatal videos. The patients were classified as having a mild (<jats:italic>n<\/jats:italic> = 4), moderate (<jats:italic>n<\/jats:italic> = 13) or severe (<jats:italic>n<\/jats:italic> = 14) disease phenotype. The most striking feature of the severe subtype was the neonatal absence of voluntary movements in combination with ventilator dependency and hyperexcitability. The foetal and neonatal presentation mirrored the course of disease with respect to survival (current median age 17.5 years in the mild group, median age of death 35 days in the severe group), severity and age of onset of all findings evaluated. CLPB deficiency should be considered in neonates with absence of voluntary movements, respiratory insufficiency and swallowing problems, especially if associated with 3\u2010methylglutaconic aciduria, neutropenia and cataracts. Being an important differential diagnosis of hyperekplexia (exaggerated startle responses), we advise performing urinary organic acid analysis, blood cell counts and ophthalmological examination in these patients. The neonatal presentation of CLPB deficiency predicts the course of disease in later life, which is extremely important for counselling.<\/jats:p>","DOI":"10.1007\/s10545-017-0057-z","type":"journal-article","created":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T08:48:20Z","timestamp":1499417300000},"page":"853-860","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients"],"prefix":"10.1002","volume":"40","author":[{"given":"Ewa","family":"Pronicka","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute Warsaw Poland"},{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariola","family":"Ropacka\u2010Lesiak","sequence":"additional","affiliation":[{"name":"Department of Perinatology and Gynaecology University of Medical Sciences Pozna\u0144 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Trubicka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Pajdowska","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Experimental Medicine Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Linke","sequence":"additional","affiliation":[{"name":"Department of Neonatology DRK Children's Hospital Siegen Siegen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsebet","family":"Ostergaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen 2100 Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Saunders","sequence":"additional","affiliation":[{"name":"Center for Pediatric Genomic Medicine Children's Mercy Hospital Kansas City MO 64108 USA"},{"name":"Department of Pathology and Laboratory Medicine Children's Mercy Hospital Kansas City MO 64108 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Horsch","sequence":"additional","affiliation":[{"name":"Department of Neonatology Helios Klinikum Berlin\u2010Buch Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"van Karnebeek","sequence":"additional","affiliation":[{"name":"Division of Biochemical Diseases, Department of Pediatrics B.C. Children's Hospital, Treatable Intellectual Disability Endeavour Vancouver BC V6H 3N4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy","family":"Yaplito\u2010Lee","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine, Murdoch Childrens Research Institute The Royal Children's Hospital Melbourne Parkville VIC 3052 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Heinrich\u2010Heine University Moorenstr. 5 Duesseldorf 40225 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[{"name":"Department of Genetics, United Laboratories Tartu University Hospital Tartu 51014 Estonia"},{"name":"Department of Pediatrics, Institute of Clinical Medicine University of Tartu Tartu 51014 Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shamima","family":"Rahman","sequence":"additional","affiliation":[{"name":"UCL Institute of Child Health London WC1N 1EH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Castelle","sequence":"additional","affiliation":[{"name":"Department of Hemato\u2010Immunology Hospital Necker\u2010Enfants malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Kelleher","sequence":"additional","affiliation":[{"name":"Department of Neonatology Our Lady's Children's Hospital Crumlin Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safa","family":"Baris","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy\/Immunology Marmara University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Iwanicka\u2010Pronicka","sequence":"additional","affiliation":[{"name":"Department of Audiology and Phoniatrics Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin G.","family":"Steward","sequence":"additional","affiliation":[{"name":"School of Cellular &amp; Molecular Medicine, Medical Sciences Building University of Bristol Bristol UK"},{"name":"Department of Haematology, Oncology and BMT Royal Hospital for Children Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia B.","family":"Wortmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Salzburger Landeskliniken and Paracelsus Medical University M\u00fcllner\u2010Hauptstra\u00dfe 48 Salzburg 5020 Austria"},{"name":"Institute of Human Genetics Technical University Munich Munich Germany"},{"name":"Institute of Human Genetics Helmholtz Zentrum Munich Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Additional individual contributors","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_3_1","first-page":"357","article-title":"Fetal biophysical profile and perinatal death","volume":"70","author":"Baskett TF","year":"1987","journal-title":"Obstet Gynecol"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102952"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9813-0"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2016.02.008"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1233066"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.12.020"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt207"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.12.013"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10545-017-0057-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-017-0057-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-017-0057-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-017-0057-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T07:53:21Z","timestamp":1694764401000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-017-0057-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,7]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1007\/s10545-017-0057-z"],"URL":"https:\/\/doi.org\/10.1007\/s10545-017-0057-z","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,7]]}}}