Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Book Chapter
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Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase DeficiencyJIMD Reports, Volume 36, 2017, Vol.36, p.117-120 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 9783662561379 ;ISBN: 3662561379 ;EISSN: 2192-8312 ;EISBN: 9783662561386 ;EISBN: 3662561387 ;DOI: 10.1007/8904_2017_12 ;OCLC: 1012105139 ;PMID: 28220409 ;LCCallNum: RB155-155.8Full text available |
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2 |
Material Type: Book Chapter
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Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative AnalysisJIMD Reports, Volume 32, 2017, Vol.32, p.41-49 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2016 ;ISSN: 2192-8304 ;ISBN: 3662543842 ;ISBN: 9783662543849 ;EISSN: 2192-8312 ;EISBN: 9783662543856 ;EISBN: 3662543850 ;DOI: 10.1007/8904_2016_567 ;OCLC: 974372410 ;PMID: 27295196 ;LCCallNum: RB155-155.8Full text available |
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3 |
Material Type: Book Chapter
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Refsum Disease Presenting with a Late-Onset LeukodystrophyJIMD Reports, Volume 19, 2015, Vol.19, p.7-10 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 9783662461891 ;ISBN: 3662461897 ;EISSN: 2192-8312 ;EISBN: 9783662461907 ;EISBN: 3662461900 ;DOI: 10.1007/8904_2014_355 ;OCLC: 913829002 ;PMID: 25604618 ;LCCallNum: RB155-155.8Full text available |
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4 |
Material Type: Book Chapter
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Morphology and Function of Cerebral Arteries in Adults with Pompe DiseaseJIMD Reports, Volume 20, 2015, Vol.20, p.27-33 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 9783662466995 ;ISBN: 3662466996 ;EISSN: 2192-8312 ;EISBN: 9783662467008 ;EISBN: 3662467003 ;DOI: 10.1007/8904_2014_385 ;OCLC: 905854121 ;PMID: 25614309 ;LCCallNum: RB155-155.8Full text available |
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5 |
Material Type: Book Chapter
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Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult PatientsJIMD Reports, Volume 34, 2017, Vol.34, p.49-54 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2016 ;ISSN: 2192-8304 ;ISBN: 9783662555859 ;ISBN: 3662555859 ;EISSN: 2192-8312 ;EISBN: 9783662555866 ;EISBN: 3662555867 ;DOI: 10.1007/8904_2016_6 ;OCLC: 993878123 ;PMID: 27518779 ;LCCallNum: RB155-155.8Full text available |