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Refined by: Journal Title: Bmj Case Reports

subject: Rare Disease

Result Number	Material Type	Record Details and Options
1	Material Type: Article	Respiratory failure caused by lipoid pneumonia from vaping e-cigarettes BMJ case reports, 2018-07, Vol.2018, p.bcr-2018-224350 [Peer Reviewed Journal] BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;Copyright: 2018 © BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. 2018 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2018-224350 ;PMID: 29982176 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Transcobalamin deficiency: vitamin B12 deficiency with normal serum B12 levels BMJ case reports, 2019-10, Vol.12 (10) [Peer Reviewed Journal] BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-232319 ;PMID: 31666257 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Multiple lesions of skull and cervical spine: a rare presentation of unicameral bone cysts BMJ case reports, 2018-07, Vol.2018, p.bcr-2017-223927 [Peer Reviewed Journal] BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;2018 BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. 2018 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2017-223927 ;PMID: 30012676 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Small intestine polypoid arteriovenous malformation: a stepwise approach to diagnosis in a paediatric case BMJ case reports, 2018-07, Vol.2018, p.bcr-2018-224536 [Peer Reviewed Journal] BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;2018 BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. 2018 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2018-224536 ;PMID: 30042105 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Endoscopic treatment of a periorbital fat herniation caused by spontaneous solution of continuity of the papyracea lamina BMJ case reports, 2019-04, Vol.12 (4), p.e229376 [Peer Reviewed Journal] BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-229376 ;PMID: 31040145 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Clinical and radiological findings in a severe case of cleidocranial dysplasia BMJ case reports, 2018-11, Vol.2018, p.bcr-2018-226671 [Peer Reviewed Journal] BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;2018 BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. 2018 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2018-226671 ;PMID: 30420564 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Dandy-Walker variant with precocious puberty: a rare association BMJ case reports, 2018-11, Vol.11 (1), p.e226281 [Peer Reviewed Journal] BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;2018 BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. 2018 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2018-226281 ;PMID: 30567100 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia BMJ case reports, 2019-12, Vol.12 (12), p.e230778 [Peer Reviewed Journal] BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-230778 ;PMID: 31801776 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Sudden onset hearing loss following intra-abdominal surgery: an unusual association BMJ case reports, 2020-09, Vol.13 (9), p.e234793 [Peer Reviewed Journal] BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2020-234793 ;PMID: 32994265 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Paternal uniparental disomy for chromosome 14: prenatal management BMJ case reports, 2019-12, Vol.12 (12), p.e231705 [Peer Reviewed Journal] BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-231705 ;PMID: 31892621 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene BMJ case reports, 2020-12, Vol.13 (12), p.e235972 [Peer Reviewed Journal] BMJ Publishing Group Limited 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 BMJ Publishing Group Limited 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;BMJ Publishing Group Limited 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2020-235972 ;PMID: 33310825 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Severe hyperandrogenism due to ovarian hyperthecosis in a young woman BMJ case reports, 2019-12, Vol.12 (12), p.e232783 [Peer Reviewed Journal] BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-232783 ;PMID: 31852694 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Case of calcific tricuspid and pulmonary valve stenosis BMJ case reports, 2020-09, Vol.13 (9), p.e235190 [Peer Reviewed Journal] BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2020-235190 ;PMID: 32900724 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Abernethy malformation and hepatocellular carcinoma: a serious consequence of a rare disease BMJ case reports, 2020-01, Vol.13 (1), p.e231843 [Peer Reviewed Journal] BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-231843 ;PMID: 31911408 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Rapidly involuting congenital haemangioma of the liver BMJ case reports, 2018-06, Vol.2018, p.bcr-2018-224337 [Peer Reviewed Journal] BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;Copyright: 2018 © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. 2018 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2018-224337 ;PMID: 29871961 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Oral manifestations of lamellar ichthyosis in association with rickets BMJ case reports, 2020-07, Vol.13 (7), p.e235008 [Peer Reviewed Journal] BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2020-235008 ;PMID: 32641302 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Os odontoideum: a rare cause of syncope BMJ case reports, 2019-11, Vol.12 (11), p.e230945 [Peer Reviewed Journal] BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-230945 ;PMID: 31780615 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	$Infantile refractory seizures due to de novo KCNT 1 mutation$ $Infantile refractory seizures due to de novo KCNT 1 mutation$ Material Type: Article	Infantile refractory seizures due to de novo KCNT 1 mutation BMJ case reports, 2019-10, Vol.12 (10), p.e231178 [Peer Reviewed Journal] BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-231178 ;PMID: 31653631 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Systemic lupus erythematosus presenting as thrombotic thrombocytopaenic purpura in a child: a diagnostic challenge BMJ case reports, 2020-09, Vol.13 (9), p.e232002 [Peer Reviewed Journal] BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-232002 ;PMID: 32878846 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Isolated unilateral proximal focal femoral deficiency presenting in a young woman BMJ case reports, 2020-01, Vol.13 (1), p.e232714 [Peer Reviewed Journal] BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-232714 ;PMID: 31969407 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by