Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Capítulo de Livro
|
![]() |
Sedimentary traces as indicator of temporary ice-marginal channels in the Westphalian Bight, GermanyMartini, I. Peter ; Baker, Victor R ; Garzón, Guillermina Garzón, Guillermina ; Baker, Victor R ; Martini, I. PeterFlood and Megaflood Processes and Deposits, 2002, Vol.17, p.281-290 [Periódico revisado por pares]United Kingdom: John Wiley & Sons, IncorporatedTexto completo disponível |
2 |
Material Type: Capítulo de Livro
|
![]() |
On religion and public policy: Does Catholicism make a difference?Castles, FrancisEuropean journal of political research, 2019, Vol.25 (1), p.19 [Periódico revisado por pares]Texto completo disponível |
3 |
Material Type: Capítulo de Livro
|
![]() |
Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in GermanyHahn, Andreas ; Praetorius, Susanne ; Karabul, Nesrin ; Dießel, Johanna ; Schmidt, Dorle ; Motz, Reinald ; Haase, Claudia ; Baethmann, Martina ; Hennermann, Julia B. ; Smitka, Martin ; Santer, René ; Muschol, Nicole ; Meyer, Ann ; Marquardt, Thorsten ; Huemer, Martina ; Thiels, Charlotte ; Rohrbach, Marianne ; Seyfullah, Gökce ; Mengel, EugenJIMD Reports, Volume 20, 2015, Vol.20, p.65-75 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
4 |
Material Type: Capítulo de Livro
|
![]() |
Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition TablesAraújo, Ana Claudia Marquim F. ; Araújo, Wilma M. C. ; Marquez, Ursula M. Lanfer ; Akutsu, Rita ; Nakano, Eduardo Y.JIMD Reports, Volume 34, 2017, Vol.34, p.87-96 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
5 |
Material Type: Capítulo de Livro
|
![]() |
Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in AdulthoodPatel, Bimal ; Pendyal, Surekha ; Kishnani, Priya S. ; McDonald, Marie ; Bailey, LaurenJIMD Reports, Volume 40, 2018, Vol.40, p.85-90 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
6 |
Material Type: Capítulo de Livro
|
![]() |
Methods of Neurodevelopmental Assessment in Children with Neurodegenerative Disease: Sanfilippo SyndromeDelaney, Kathleen A. ; Rudser, Kyle R. ; Yund, Brianna D. ; Whitley, Chester B. ; Haslett, Patrick A. J. ; Shapiro, Elsa G.JIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.129-137 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
7 |
Material Type: Capítulo de Livro
|
![]() |
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort StudyLeuders, Sarah ; Wolfgart, Eva ; Ott, Torsten ; du Moulin, Marcel ; van Teeffelen-Heithoff, Agnes ; Vogelpohl, Lydia ; Och, Ulrike ; Marquardt, Thorsten ; Weglage, Josef ; Feldmann, Reinhold ; Rutsch, FrankJIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.101-109 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
8 |
Material Type: Capítulo de Livro
|
![]() |
Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild PhenylketonuriaDoyle, S. ; O’Regan, M. ; Stenson, C. ; Bracken, J. ; Hendroff, U. ; Agasarova, A. ; Deverell, D. ; Treacy, E. P.JIMD Reports, Volume 40, 2018, Vol.40, p.71-76 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
9 |
Material Type: Capítulo de Livro
|
![]() |
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeFan, Yuxin ; Steller, Jon ; Gonzalez, Iris L. ; Kulik, Wim ; Fox, Michelle ; Chang, Richard ; Westerfield, Brandy A. ; Batra, Anjan S. ; Wang, Raymond Yu Jeang ; Gallant, Natalie M. ; Pena, Liana S. ; Wang, Hu ; Huang, Taosheng ; Bhuta, Sunita ; Penny, Daniel J. ; McCabe, Edward R. ; Kimonis, Virginia E.JIMD Reports - Volume 11, 2013, Vol.11, p.99-106 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |