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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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A Retrospective Survey Studying the Impact of Fabry Disease on PregnancyJIMD Reports, Volume 21, 2015, Vol.21, p.57-63 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 366247171X ;ISBN: 9783662471715 ;EISSN: 2192-8312 ;EISBN: 3662471728 ;EISBN: 9783662471722 ;DOI: 10.1007/8904_2014_384 ;OCLC: 911200774 ;PMID: 25701267 ;LCCallNum: RB155-155.8Full text available |
| 2 |
Material Type: Book Chapter
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Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase DeficiencyJIMD Reports, Volume 23, 2015, Vol.23, p.67-70 [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_428 ;OCLC: 912500657 ;OCLC: 1223090253 ;PMID: 25763512 ;LCCallNum: RB155-155.8Full text available |
| 3 |
Material Type: Book Chapter
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Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G CarriersJIMD Reports, Volume 24, 2015, Vol.24, p.69-81 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 9783662482261 ;ISBN: 3662482266 ;EISSN: 2192-8312 ;EISBN: 9783662482278 ;EISBN: 3662482274 ;DOI: 10.1007/8904_2015_436 ;PMID: 25967227Full text available |
| 4 |
Material Type: Book Chapter
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Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase DeficiencyJIMD Reports, Volume 39, 2018, Vol.39, p.1-6 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 3662575760 ;ISBN: 9783662575765 ;EISSN: 2192-8312 ;EISBN: 3662575779 ;EISBN: 9783662575772 ;DOI: 10.1007/8904_2017_38 ;OCLC: 1036731257 ;PMID: 28685490 ;LCCallNum: RB155-155.8Full text available |
| 5 |
Material Type: Book Chapter
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Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body MetabolismJIMD Reports, Volume 38, 2018, Vol.38, p.41-44 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 9783662566091 ;ISBN: 3662566095 ;EISSN: 2192-8312 ;EISBN: 9783662566107 ;EISBN: 3662566109 ;DOI: 10.1007/8904_2017_24 ;OCLC: 1030303370 ;PMID: 28488182 ;LCCallNum: RB155-155.8Full text available |
| 6 |
Material Type: Book Chapter
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Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal CharacteristicsJIMD Reports, Volume 21, 2015, Vol.21, p.23-33 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 366247171X ;ISBN: 9783662471715 ;EISSN: 2192-8312 ;EISBN: 3662471728 ;EISBN: 9783662471722 ;DOI: 10.1007/8904_2014_365 ;OCLC: 911200774 ;PMID: 25712380 ;LCCallNum: RB155-155.8Full text available |
| 7 |
Material Type: Book Chapter
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Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?JIMD Reports, Volume 36, 2017, Vol.36, p.35-40 [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_2016_30 ;OCLC: 1012105139 ;PMID: 28105570 ;LCCallNum: RB155-155.8Full text available |
| 8 |
Material Type: Book Chapter
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The Impact of Fabry Disease on Reproductive FitnessJIMD Reports, Volume 37, 2017, Vol.37, p.85-97 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2017 ;ISSN: 2192-8304 ;ISBN: 3662563584 ;ISBN: 9783662563588 ;EISSN: 2192-8312 ;EISBN: 3662563592 ;EISBN: 9783662563595 ;DOI: 10.1007/8904_2017_17 ;OCLC: 1017098787 ;PMID: 28324326 ;LCCallNum: RB155-155.8Full text available |
| 9 |
Material Type: Book Chapter
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A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of PhenylketonuriaJIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.109-119 [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_168 ;OCLC: 813213127 ;PMID: 23430527 ;LCCallNum: RB155-155.8Full text available |
| 10 |
Material Type: Book Chapter
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Multiple, Successful Pregnancies in Pompe DiseaseJIMD Reports, Volume 28, 2016, Vol.28, p.111-118 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 9783662528464 ;ISBN: 3662528460 ;EISSN: 2192-8312 ;EISBN: 3662528479 ;EISBN: 9783662528471 ;DOI: 10.1007/8904_2015_518 ;OCLC: 953525998 ;PMID: 26572913 ;LCCallNum: RB155-155.8Full text available |
| 11 |
Material Type: Book Chapter
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High Dietary Folic Acid and High Plasma Folate in Children and Adults with PhenylketonuriaJIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.83-90 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2013 ;ISSN: 2192-8304 ;ISBN: 9783642541483 ;ISBN: 3642541488 ;EISSN: 2192-8312 ;EISBN: 9783642541490 ;EISBN: 3642541496 ;DOI: 10.1007/8904_2013_260 ;OCLC: 890721014 ;PMID: 24136656 ;LCCallNum: RB155-155.8Full text available |
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