Results 1 - 20 of 115 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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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 |
| 2 |
Material Type: Book Chapter
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Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type IJIMD Reports - Volume 10, 2013, Vol.10, p.87-94 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2012 ;ISSN: 2192-8304 ;ISBN: 364237333X ;ISBN: 9783642373336 ;EISSN: 2192-8312 ;EISBN: 3642373348 ;EISBN: 9783642373343 ;DOI: 10.1007/8904_2012_208 ;PMID: 23430808Full text available |
| 3 |
Material Type: Book Chapter
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Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1JIMD Reports, Volume 36, 2017, Vol.36, p.79-84 [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_38 ;PMID: 28160246Full text available |
| 4 |
Material Type: Book Chapter
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Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase DeficiencyJIMD Reports, Volume 35, 2017, Vol.35, p.59-65 [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_26 ;PMID: 27928777Full text available |
| 5 |
Material Type: Book Chapter
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Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1JIMD Reports, Volume 19, 2015, Vol.19, p.43-58 [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_363 ;PMID: 25681080Full text available |
| 6 |
Material Type: Book Chapter
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Severe Impairment of Regulatory T-Cells and Th1-Lymphocyte Polarization in Patients with Gaucher DiseaseJIMD Reports, Volume 18, 2015, Vol.18, p.107-115 [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_357 ;PMID: 25308560Full text available |
| 7 |
Material Type: Book Chapter
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Occurrence of Malignant Tumours in the Acute Hepatic PorphyriasJIMD Reports, Volume 22, 2015, Vol.22, p.17-22 [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_406 ;PMID: 25701268Full text available |
| 8 |
Material Type: Book Chapter
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Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent MutationsJIMD Reports, Volume 21, 2015, Vol.21, p.123-128 [Peer Reviewed Journal]SSIEM and Springer-Verlag Berlin Heidelberg 2015 ;ISSN: 2192-8304 ;ISBN: 366247171X ;ISBN: 9783662471715 ;EISSN: 2192-8312 ;EISBN: 3662471728 ;EISBN: 9783662471722 ;DOI: 10.1007/8904_2015_441 ;PMID: 26006720Full text available |
| 9 |
Material Type: Book Chapter
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Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of TreatmentJIMD Reports - Volume 11, 2013, Vol.11, p.1-6 [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_214 ;PMID: 23430813Full text available |
| 10 |
Material Type: Book Chapter
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Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using TeriparatideJIMD Reports, Volume 22, 2015, Vol.22, p.23-28 [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_407 ;PMID: 25732996Full text available |
| 11 |
Material Type: Book Chapter
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Avant-proposInternational Development Policy | Revue internationale de politique de développement, 2010ISSN: 1663-9383 ;EISSN: 1663-9391 ;DOI: 10.4000/poldev.171Full text available |
| 12 |
Material Type: Book Chapter
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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 ;PMID: 27557812Full text available |
| 13 |
Material Type: Book Chapter
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Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian ExperienceJIMD Reports, Volume 35, 2017, Vol.35, p.47-52 [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_24 ;PMID: 27928775Full text available |
| 14 |
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 ;PMID: 25701267Full text available |
| 15 |
Material Type: Book Chapter
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Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?JIMD Reports, Volume 18, 2015, Vol.18, p.117-124 [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_358 ;PMID: 25256450Full text available |
| 16 |
Material Type: Book Chapter
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Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental DistressJIMD Reports, Volume 41, 2018, Vol.41, p.91-100 [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_105 ;PMID: 29675588Full text available |
| 17 |
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 ;PMID: 28324326Full text available |
| 18 |
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 |
| 19 |
Material Type: Book Chapter
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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 ;PMID: 28980192Full text available |
| 20 |
Material Type: Book Chapter
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Obesity, Cardiometabolic Risk, and Chronic Kidney DiseaseObesity, p.181-198 [Peer Reviewed Journal]Springer International Publishing Switzerland 2016 ;ISBN: 9783319198200 ;ISBN: 3319198203 ;EISBN: 3319198211 ;EISBN: 9783319198217 ;DOI: 10.1007/978-3-319-19821-7_14Full text available |
Results 1 - 20 of 115 for All Library Resources
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- Genetics & Heredity (96)
- Life Sciences & Biomedicine (96)
- Science & Technology (96)
- Endocrinology & Metabolism (84)
- Medical Genetics (78)
- Metabolism (78)
- Paediatric Medicine (78)
- Enzyme Replacement Therapy (20)
- Fabry Disease (10)
- Newborn Screening (8)
- Lysosomal Storage Disease (5)
- Gauche Disease (4)
- Dermatan Sulfate (4)
- Glycogen Storage Disease (3)
- Dried Blood Spots (3)
- Lysosomal Storage Disorder (3)
- Left Ventricular Hypertrophy (3)
- Urine Organic Acid (3)
- Agalsidase Alfa (2)
- Blood Phenylalanine (2)
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