Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 GeneAdelino, Talita E R ; Martins, Gustavo G ; Gomes, Aretta A A ; Torres, Adriana A ; Silva, Daniel A S ; Xavier, Vinícius D O ; Guimarães, João Paulo O ; Araújo, Sérgio S S ; Fernandes, Rachel A F ; Oliveira, Maria Christina L A ; Godard, Ana Lúcia B ; Valadares, Eugênia R Morava, Eva ; Peters, Verena ; Zschocke, Johannes ; Gibson, K. Michael ; Brown, GarryJIMD Reports – Case and Research Reports, 2012/6, 2013-01, Vol.9, p.85-91 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
2 |
Material Type: Artigo
|
![]() |
A Japanese Adult Case of Guanidinoacetate Methyltransferase DeficiencyAkiyama, Tomoyuki ; Osaka, Hitoshi ; Shimbo, Hiroko ; Nakajiri, Tomoshi ; Kobayashi, Katsuhiro ; Oka, Makio ; Endoh, Fumika ; Yoshinaga, Harumi Peters, Verena ; Zschocke, Johannes ; Gibson, K Michael ; Brown, Garry ; Morava, EvaJIMD Reports - Volume 12, 2014-01, Vol.12, p.65-69 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
3 |
Material Type: Artigo
|
![]() |
The Role of Health Status in Older Adults’ Perceptions of the Usefulness of eHealth TechnologyBest, Ryan ; Souders, Dustin J. ; Charness, Neil ; Mitzner, Tracy L. ; Rogers, Wendy A. Salvendy, Gavriel ; Zhou, JiaHuman Aspects of IT for the Aged Population. Design for Everyday Life, 2015-09, p.3-14 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
4 |
Material Type: Artigo
|
![]() |
Muscarinic Receptor Subtypes in Normal, Fetal, and Gravid Rabbit Bladder, Heart and UterusBrandes, Steven B. ; Ruggieri, Michael R. Zderic, Stephen A.Muscle, Matrix, and Bladder Function, p.241-249 [Periódico revisado por pares]Boston, MA: Springer USTexto completo disponível |
5 |
Material Type: Artigo
|
![]() |
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated DonorBrodszki, Nicholas ; Svensson, Maria ; van Kuilenburg, André B. P. ; Meijer, Judith ; Zoetekouw, Lida ; Truedsson, Lennart ; Toporski, Jacek Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, ShamimaJIMD Reports, Volume 24, 2015-01, Vol.24, p.83-89 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
6 |
Material Type: Artigo
|
![]() |
Effect of ischemic preconditioning on brain tissue gases and pH during temporary cerebral artery occlusionChan, M. T. V. ; Boet, R. ; Ng, S. C. P. ; Poon, W. S. ; Gin, T. Hutchinson, Peter J. A. ; Goh, Keith Y. C. ; Lam, Joseph M. K. ; Marmarou, Anthony ; Ng, Stephanie C. P. ; Katayama, Yoichi ; Czosnyka, Marek ; Avezaat, Cees J. J. ; Poon, Wai S. ; Chan, Matthew T. V. ; Pickard, John D.Intracranial Pressure and Brain Monitoring XII, p.93-96 [Periódico revisado por pares]Vienna: Springer ViennaTexto completo disponível |
7 |
Material Type: Artigo
|
![]() |
Limited Proliferative Potential of Primitive Hematopoietic Stem Cells: Hematopoiesis by Clonal SuccessionChertkov, J. L. ; Deryugina, E. I. ; Drize, N. J. ; Sadovnikova, E. Yu Gallo, Robert C. ; Gohla, Sven ; Ritter, Jörg ; Gaedicke, Gerhard ; Neth, Rolf ; Mannweiler, Klaus ; Greaves, Melvyn F.Modern Trends in Human Leukemia VIII, p.178-182Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
8 |
Material Type: Artigo
|
![]() |
Fatty Acid Oxidation Disorders in a Chinese Population in TaiwanChien, Yin-Hsiu ; Lee, Ni-Chung ; Chao, Mei-Chyn ; Chen, Li-Chu ; Chen, Li-Hsin ; Chien, Chun-Ching ; Ho, Hui-Chen ; Suen, Jeng-Hung ; Hwu, Wuh-Liang Peters, Verena ; Morava, Eva ; Zschocke, Johannes ; Gibson, K Michael ; Brown, GarryJIMD Reports - Volume 11, 2013-01, Vol.11, p.165-172 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
Cerebral blood flow mapping in two different subtypes of intraparenchymal hemorrhagic traumatic lesionsChieregato, A. ; Compagnone, C. ; Tanfani, A. ; Ravaldini, M. ; Tagliaferri, F. ; Pascarella, R. ; Servadei, F. ; Targa, L. ; Fainardi, E. Hutchinson, Peter J. A. ; Goh, Keith Y. C. ; Lam, Joseph M. K. ; Marmarou, Anthony ; Ng, Stephanie C. P. ; Katayama, Yoichi ; Czosnyka, Marek ; Avezaat, Cees J. J. ; Poon, Wai S. ; Chan, Matthew T. V. ; Pickard, John D.Intracranial Pressure and Brain Monitoring XII, p.159-164 [Periódico revisado por pares]Vienna: Springer ViennaTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
Dietary Habits and Metabolic Control in Adolescents and Young Adults with Phenylketonuria: Self-Imposed Protein Restriction May Be HarmfulDas, A. M. ; Goedecke, K. ; Meyer, U. ; Kanzelmeyer, N. ; Koch, S. ; Illsinger, S. ; Lücke, T. ; Hartmann, H. ; Lange, K. ; Lanfermann, H. ; Hoy, L. ; Ding, X.-Q. Peters, Verena ; Gibson, K. Michael ; Zschocke, Johannes ; Brown, Garry ; Morava, EvaJIMD Reports - Case and Research Reports, Volume 13, 2014-01, Vol.13, p.149-158 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |