10 Results for All Library Resources
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Open Access: Wiley-Blackwell Open Access Journals
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Book Chapters
resource type:
Book Chapters
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Book Chapter
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Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR MutationJIMD Reports, Volume 35, 2017, Vol.35, p.67-70 [Peer Reviewed Journal]Society for the Study of Inborn Errors of Metabolism (SSIEM) 2016 ;ISSN: 2192-8304 ;ISBN: 3662558327 ;ISBN: 9783662558324 ;EISSN: 2192-8312 ;EISBN: 3662558335 ;EISBN: 9783662558331 ;DOI: 10.1007/8904_2016_29 ;PMID: 27933557Full text available |
| 2 |
Material Type: Book Chapter
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Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to CystinosisJIMD Reports Volume 16, 2014, Vol.16, p.25-30 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 9783662445860 ;ISBN: 3662445867 ;EISSN: 2192-8312 ;EISBN: 3662445875 ;EISBN: 9783662445877 ;DOI: 10.1007/8904_2014_312 ;PMID: 24798266Full text available |
| 3 |
Material Type: Book Chapter
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Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier DiseaseJIMD Reports, Volume 18, 2015, Vol.18, p.51-62 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 9783662448625 ;ISBN: 3662448629 ;EISSN: 2192-8312 ;EISBN: 3662448637 ;EISBN: 9783662448632 ;DOI: 10.1007/8904_2014_348 ;PMID: 25308558Full text available |
| 4 |
Material Type: Book Chapter
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Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based AssessmentsJIMD Reports, Volume 18, 2015, Vol.18, p.41-50 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 9783662448625 ;ISBN: 3662448629 ;EISSN: 2192-8312 ;EISBN: 3662448637 ;EISBN: 9783662448632 ;DOI: 10.1007/8904_2014_346 ;PMID: 25567791Full text available |
| 5 |
Material Type: Book Chapter
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Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot StudyJIMD Reports, Volume 32, 2017, Vol.32, p.15-24 [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_553 ;PMID: 27295193Full text available |
| 6 |
Material Type: Book Chapter
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Fabry Disease in Latin America: Data from the Fabry RegistryJIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.91-99 [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_165 ;PMID: 23430525Full text available |
| 7 |
Material Type: Book Chapter
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Innate and Adaptive Immune Response in Fabry DiseaseJIMD Reports, Volume 22, 2015, Vol.22, p.1-10 [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_2014_371 ;PMID: 25690728Full text available |
| 8 |
Material Type: Book Chapter
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Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese BrothersJIMD Reports, Volume 40, 2018, Vol.40, p.55-62 [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_57 ;PMID: 28983876Full text available |
| 9 |
Material Type: Book Chapter
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Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS)JIMD Reports - Volume 10, 2013, Vol.10, p.69-78 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2013 ;ISSN: 2192-8304 ;ISBN: 364237333X ;ISBN: 9783642373336 ;EISSN: 2192-8312 ;EISBN: 3642373348 ;EISBN: 9783642373343 ;DOI: 10.1007/8904_2012_205 ;PMID: 23430805Full text available |
| 10 |
Material Type: Book Chapter
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Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry DiseaseJIMD Reports, Volume 31, 2017, Vol.31, p.37-44 [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_549 ;PMID: 27008194Full text available |
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- Medical Genetics (9)
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- Abnormal Periodic Leg Movements (1)
- Abca1 Gene (1)
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