Results 1 - 20 of 362 for All Library Resources
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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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StructuRegNet: Structure-Guided Multimodal 2D-3D RegistrationOncoimmunology, 2023, Vol.14229 (1), p.771-780 [Peer Reviewed Journal]Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 2162-4011 ;EISSN: 2162-402X ;DOI: 10.1007/978-3-031-43999-5_73Full text available |
| 2 |
Material Type: Book Chapter
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Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene MutationsJIMD Reports, Volume 38, 2018, Vol.38, p.33-40 [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_27 ;PMID: 28456887Full text available |
| 3 |
Material Type: Book Chapter
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Tetramolecular Quadruplex Stability and AssemblyNucleic acids research, 2013, Vol.330 (18), p.243-273 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 2012 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0340-1022 ;ISSN: 0305-1048 ;ISBN: 9783642347429 ;ISBN: 3642347428 ;EISSN: 1436-5049 ;EISSN: 1362-4962 ;EISBN: 3642347436 ;EISBN: 9783642347436 ;DOI: 10.1007/128_2012_334 ;OCLC: 828386118 ;LCCallNum: QD1-999Full text available |
| 4 |
Material Type: Book Chapter
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The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed PatientsJIMD Reports, Volume 39, 2018, Vol.39, p.13-17 [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_41 ;PMID: 28685491Full text available |
| 5 |
Material Type: Book Chapter
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Mortality in Patients with Morquio Syndrome AJIMD Reports, Volume 15, 2015, Vol.15, p.59-66 [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_298 ;PMID: 24718838Full text available |
| 6 |
Material Type: Book Chapter
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Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking AheadJIMD Reports, Volume 15, 2015, Vol.15, p.79-93 [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_302 ;PMID: 24718839Full text available |
| 7 |
Material Type: Book Chapter
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Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic ReviewJIMD Reports, Volume 39, 2018, Vol.39, p.107-116 [Peer Reviewed Journal]Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 3662575760 ;ISBN: 9783662575765 ;EISSN: 2192-8312 ;EISBN: 3662575779 ;EISBN: 9783662575772 ;DOI: 10.1007/8904_2017_52 ;PMID: 28840576Full text available |
| 8 |
Material Type: Book Chapter
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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) DeficiencyJIMD Reports, Volume 34, 2017, Vol.34, p.111-115 [Peer Reviewed Journal]Society for the Study of Inborn Errors of Metabolism (SSIEM) 2016 ;ISSN: 2192-8304 ;ISBN: 9783662555859 ;ISBN: 3662555859 ;EISSN: 2192-8312 ;EISBN: 9783662555866 ;EISBN: 3662555867 ;DOI: 10.1007/8904_2016_14 ;PMID: 27815844Full text available |
| 9 |
Material Type: Book Chapter
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Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in TaiwanJIMD Reports, Volume 40, 2018, Vol.40, p.1-6 [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_54 ;PMID: 28856607Full text available |
| 10 |
Material Type: Book Chapter
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Newborn Screening for Vitamin B 6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier StrategyJIMD reports, 2017, Vol.32, p.87 [Peer Reviewed Journal]ISSN: 2192-8304 ;EISSN: 2192-8312 ;DOI: 10.1007/8904_2016_556 ;PMID: 27325427Full text available |
| 11 |
Material Type: Book Chapter
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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-UpJIMD Reports, Volume 39, 2018, Vol.39, p.83-87 [Peer Reviewed Journal]Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 ;ISSN: 2192-8304 ;ISBN: 3662575760 ;ISBN: 9783662575765 ;EISSN: 2192-8312 ;EISBN: 3662575779 ;EISBN: 9783662575772 ;DOI: 10.1007/8904_2017_48 ;PMID: 28755360Full text available |
| 12 |
Material Type: Book Chapter
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Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested PathomechanismsJIMD Reports, Volume 39, 2018, Vol.39, p.25-30 [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_44 ;PMID: 28699143Full text available |
| 13 |
Material Type: Book Chapter
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Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot StudyJIMD Reports, Volume 41, 2018, Vol.41, p.63-72 [Peer Reviewed Journal]Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018 ;ISSN: 2192-8304 ;ISBN: 9783662580806 ;ISBN: 3662580802 ;EISSN: 2192-8312 ;EISBN: 9783662580813 ;EISBN: 3662580810 ;DOI: 10.1007/8904_2018_102 ;PMID: 29654548Full text available |
| 14 |
Material Type: Book Chapter
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First Successful Conception Induced by a Male Cystinosis PatientJIMD Reports, Volume 38, 2018, Vol.38, p.1-6 [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_19 ;PMID: 28405942Full text available |
| 15 |
Material Type: Book Chapter
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Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBCJIMD Reports, Volume 40, 2018, Vol.40, p.97-103 [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_69 ;PMID: 29143197Full text available |
| 16 |
Material Type: Book Chapter
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Mutations in GMPPB Presenting with Pseudometabolic MyopathyJIMD Reports, Volume 38, 2018, Vol.38, p.23-31 [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_25 ;PMID: 28456886Full text available |
| 17 |
Material Type: Book Chapter
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Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical SuspicionJIMD Reports, Volume 40, 2018, Vol.40, p.7-9 [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_56 ;PMID: 28879639Full text available |
| 18 |
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 |
| 19 |
Material Type: Book Chapter
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Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent SymptomsJIMD Reports, Volume 22, 2015, Vol.22, p.57-65 [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_411 ;PMID: 25762493Full text available |
| 20 |
Material Type: Book Chapter
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LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureJIMD Reports, Volume 28, 2016, Vol.28, p.49-57 [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_515 ;PMID: 26537577Full text available |
Results 1 - 20 of 362 for All Library Resources
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- Enzyme Replacement Therapy (43)
- Fabry Disease (24)
- Newborn Screening (20)
- Intellectual Disability (16)
- Lysosomal Storage Disease (13)
- Gauche Disease (11)
- Pompe Disease (11)
- Glycogen Storage Disease (9)
- Maple Syrup Urine Disease (9)
- Lysosomal Storage Disorder (8)
- Methylmalonic Acid (7)
- Ketogenic Diet (6)
- Mitochondrial Disease (6)
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