Results 1 - 20 of 27 for All Library Resources
Sorted by:
Sorted by:
RelevanceOr hit Enter to replace sort method
- Relevance
- Date-newest
- Date-oldest
- Popularity
- Author
- Title
Show only
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Book Chapter
|
|
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 |
| 2 |
Material Type: Book Chapter
|
|
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase DeficiencyJIMD Reports, Volume 39, 2018, Vol.39, p.19-23 [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_36 ;OCLC: 1036731257 ;PMID: 28689308 ;LCCallNum: RB155-155.8Full text available |
| 3 |
Material Type: Book Chapter
|
|
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase DeficiencyJIMD Reports, Volume 27, 2016, Vol.27, p.11-15 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 9783662504086 ;ISBN: 3662504081 ;EISSN: 2192-8312 ;EISBN: 366250409X ;EISBN: 9783662504093 ;DOI: 10.1007/8904_2015_463 ;OCLC: 950465921 ;PMID: 26404458 ;LCCallNum: RB155-155.8Full text available |
| 4 |
Material Type: Book Chapter
|
|
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA DepletionJIMD Reports, Volume 27, 2016, Vol.27, p.1-9 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 9783662504086 ;ISBN: 3662504081 ;EISSN: 2192-8312 ;EISBN: 366250409X ;EISBN: 9783662504093 ;DOI: 10.1007/8904_2015_491 ;OCLC: 950465921 ;PMID: 26404457 ;LCCallNum: RB155-155.8Full text available |
| 5 |
Material Type: Book Chapter
|
|
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 |
| 6 |
Material Type: Book Chapter
|
|
Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry CardiomyopathyJIMD Reports, Volume 28, 2015, Vol.28, p.19-28 [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_502 ;OCLC: 953525998 ;PMID: 26498960 ;LCCallNum: RB155-155.8Full text available |
| 7 |
Material Type: Book Chapter
|
|
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 |
| 8 |
Material Type: Book Chapter
|
|
Early Cardiac Changes in Children with Anderson-Fabry DiseaseJIMD Reports - Volume 11, 2013, Vol.11, p.53-64 [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_222 ;OCLC: 862201365 ;PMID: 23546814 ;LCCallNum: RB155-155.8Full text available |
| 9 |
Material Type: Book Chapter
|
|
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 ;OCLC: 813213127 ;PMID: 23430525 ;LCCallNum: RB155-155.8Full text available |
| 10 |
Material Type: Book Chapter
|
|
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 ;OCLC: 974372410 ;PMID: 27295193 ;LCCallNum: RB155-155.8Full text available |
| 11 |
Material Type: Book Chapter
|
|
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 ;OCLC: 913220159 ;PMID: 25690728 ;LCCallNum: RB155-155.8Full text available |
| 12 |
Material Type: Book Chapter
|
|
Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in GermanyJIMD Reports, Volume 20, 2015, Vol.20, p.65-75 [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_392 ;OCLC: 905854121 ;PMID: 25626711 ;LCCallNum: RB155-155.8Full text available |
| 13 |
Material Type: Book Chapter
|
|
Lower Urinary Tract Symptoms and Incontinence in Children with Pompe DiseaseJIMD Reports, Volume 28, 2016, Vol.28, p.59-67 [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_492 ;OCLC: 953525998 ;PMID: 26537578 ;LCCallNum: RB155-155.8Full text available |
| 14 |
Material Type: Book Chapter
|
|
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 |
| 15 |
Material Type: Book Chapter
|
|
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 |
| 16 |
Material Type: Book Chapter
|
|
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 |
| 17 |
Material Type: Book Chapter
|
|
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 |
| 18 |
Material Type: Book Chapter
|
|
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type IIIJIMD Reports, Volume 17, 2014, Vol.17, p.91-95 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2014 ;ISSN: 2192-8304 ;ISBN: 9783662445778 ;ISBN: 3662445778 ;EISSN: 2192-8312 ;EISBN: 3662445786 ;EISBN: 9783662445785 ;DOI: 10.1007/8904_2014_343 ;OCLC: 899000640 ;PMID: 25308556 ;LCCallNum: RB155-155.8Full text available |
| 19 |
Material Type: Book Chapter
|
|
Delayed Infusion Reactions to Enzyme Replacement TherapiesJIMD Reports, Volume 34, 2017, Vol.34, p.63-70 [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_8 ;OCLC: 993878123 ;PMID: 27557812 ;LCCallNum: RB155-155.8Full text available |
| 20 |
Material Type: Book Chapter
|
|
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn ScreeningJIMD Reports, Volume 35, 2017, Vol.35, p.53-58 [Peer Reviewed Journal]Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 3662558327 ;ISBN: 9783662558324 ;EISSN: 2192-8312 ;EISBN: 3662558335 ;EISBN: 9783662558331 ;DOI: 10.1007/8904_2016_25 ;OCLC: 1003192618 ;PMID: 27928776 ;LCCallNum: RB155-155.8Full text available |
Results 1 - 20 of 27 for All Library Resources
Sorted by:
Sorted by:
RelevanceOr hit Enter to replace sort method
- Relevance
- Date-newest
- Date-oldest
- Popularity
- Author
- Title
Personalize your results
Refine Search Results
Expand My Results
Show only
Refine My Results
Creation Date
- Before 2013 (1)
- 2013 To 2013 (6)
- 2014 To 2014 (2)
- 2015 To 2016 (10)
- After 2016 (8)
-
More options
Subject
- Genetics & Heredity (26)
- Medical Genetics (23)
- Metabolism (23)
- Endocrinology & Metabolism (23)
- Paediatric Medicine (23)
- Enzyme Replacement Therapy (6)
- Fabry Disease (5)
- Pompe Disease (5)
- Cardiomyopathy (3)
- Glycogen Storage Disease (2)
- Hypertrophic Cardiomyopathy (2)
- Barth Syndrome (2)
- Lysosomal Storage Disorder (2)
- Left Ventricular Hypertrophy (2)
- Acid Alpha-Glucosidase Deficiency (1)
- 3-Methylglutaconic Aciduria (1)
- Acadvl (1)
- Acid Phosphatase (1)
-
More options
Databases
- PubMed Central (27)
- ProQuest Central (27)
- Journals@Ovid Open Access Journal Collection Rolling (26)
- GFMER Free Medical Journals (26)
- Wiley-Blackwell Open Access Titles (26)
- SpringerLink Fully Open Access Books (1)
- ROAD: Directory of Open Access Scholarly Resources (1)
- ProQuest One Psychology (1)
-
More options
|
||||
 |
INSPIRE LIBRARY - TON DUC THANG UNIVERSITY |  |
(84-028) 37 755 057 | Feedback |
| 19 Nguyen Huu Tho St. Dist.7, HCM |  |
thuvien@tdtu.edu.vn | ||