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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Book Chapter
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Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase DeficiencyJIMD Reports, Volume 40, 2018, Vol.40, p.47-53 [Peer Reviewed Journal]Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 9783662578797 ;ISBN: 3662578794 ;EISSN: 2192-8312 ;EISBN: 9783662578803 ;EISBN: 3662578808 ;DOI: 10.1007/8904_2017_58 ;OCLC: 1044767859 ;PMID: 28980192 ;LCCallNum: RB155-155.8Full text available |
| 2 |
Material Type: Book Chapter
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Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe DiseaseJIMD Reports, Volume 23, 2015, Vol.23, p.45-54 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 3662474662 ;ISBN: 9783662474662 ;EISSN: 2192-8312 ;EISBN: 9783662474679 ;EISBN: 3662474670 ;DOI: 10.1007/8904_2015_426 ;OCLC: 912500657 ;OCLC: 1223090253 ;PMID: 25763511 ;LCCallNum: RB155-155.8Full text available |
| 3 |
Material Type: Book Chapter
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Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial MyopathyJIMD Reports, Volume 22, 2015, Vol.22, p.39-45 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 3662474522 ;ISBN: 9783662474525 ;EISSN: 2192-8312 ;EISBN: 9783662474532 ;EISBN: 3662474530 ;DOI: 10.1007/8904_2015_409 ;OCLC: 913220159 ;PMID: 25732997 ;LCCallNum: RB155-155.8Full text available |
| 4 |
Material Type: Book Chapter
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Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac TransplantationJIMD Reports, Volume 40, 2018, Vol.40, p.91-95 [Peer Reviewed Journal]Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 9783662578797 ;ISBN: 3662578794 ;EISSN: 2192-8312 ;EISBN: 9783662578803 ;EISBN: 3662578808 ;DOI: 10.1007/8904_2017_68 ;OCLC: 1044767859 ;PMID: 29124685 ;LCCallNum: RB155-155.8Full text available |
| 5 |
Material Type: Book Chapter
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Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case ReportJIMD Reports, Volume 31, 2017, Vol.31, p.79-83 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2016 ;ISSN: 2192-8304 ;ISBN: 9783662541180 ;ISBN: 3662541181 ;EISSN: 2192-8312 ;EISBN: 9783662541197 ;EISBN: 366254119X ;DOI: 10.1007/8904_2016_563 ;OCLC: 969124989 ;PMID: 27142047 ;LCCallNum: RB155-155.8Full text available |
| 6 |
Material Type: Book Chapter
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Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyJIMD Reports, Volume 15, 2015, Vol.15, p.71-78 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 9783662437506 ;ISBN: 3662437503 ;EISSN: 2192-8312 ;EISBN: 3662437511 ;EISBN: 9783662437513 ;DOI: 10.1007/8904_2014_300 ;OCLC: 898476756 ;PMID: 24740313 ;LCCallNum: RB155-155.8Full text available |
| 7 |
Material Type: Book Chapter
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Danon Disease Due to a Novel LAMP2 MicroduplicationJIMD Reports, Volume 14, 2014, Vol.14, p.11-16 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2013 ;ISSN: 2192-8304 ;ISBN: 9783662437476 ;ISBN: 3662437473 ;EISSN: 2192-8312 ;EISBN: 3662437481 ;EISBN: 9783662437483 ;DOI: 10.1007/8904_2013_277 ;OCLC: 894577489 ;PMID: 24222494 ;LCCallNum: RB155-155.8Full text available |
| 8 |
Material Type: Book Chapter
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The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAEJIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.7-10 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2012 ;ISSN: 2192-8304 ;ISBN: 9783642334320 ;ISBN: 3642334326 ;EISSN: 2192-8312 ;EISBN: 3642334334 ;EISBN: 9783642334337 ;DOI: 10.1007/8904_2012_148 ;OCLC: 813213127 ;PMID: 23430513 ;LCCallNum: RB155-155.8Full text available |
| 9 |
Material Type: Book Chapter
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A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeJIMD Reports - Volume 11, 2013, Vol.11, p.99-106 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2013 ;ISSN: 2192-8304 ;ISBN: 9783642373275 ;ISBN: 3642373275 ;EISSN: 2192-8312 ;EISBN: 3642373283 ;EISBN: 9783642373282 ;DOI: 10.1007/8904_2013_228 ;OCLC: 862201365 ;PMID: 23606313 ;LCCallNum: RB155-155.8Full text available |
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