E-LIB Suche - Ergebnisse für: Bodamer, O. A.

1

PRO68 THE USE OF A PATIENT REGISTRY TO BETTER INFORM HEALTH..:

Blakely, E. ; Brown, C. ; Bodamer, O....
Value in Health. 22 (2019) - p. S348 , 2019

Link: https://doi.org/10.1016/..

2

Expanding the clinical spectrum of biallelic ZNF335 variant:

Stouffs, K. ; Stergachis, A.B. ; Vanderhasselt, T....
Clinical Genetics. 94 (2018) 2 - p. 246-251 , 2018

Link: https://doi.org/10.1111/..

3

Mutations inRIT1cause Noonan syndrome - additional function..:

Koenighofer, M. ; Hung, C. Y. ; McCauley, J. L....
Clinical Genetics. 89 (2015) 3 - p. 359-366 , 2015

Link: https://doi.org/10.1111/..

4

Liver, Pancreas and Kidney Transplantation for the Treatmen..:

Tzakis, A.G. ; Nunnelley, M.J. ; Tekin, A....
American Journal of Transplantation. 15 (2015) 2 - p. 565-567 , 2015

Link: https://doi.org/10.1111/..

5

Update on transcobalamin deficiency: clinical presentation,..:

Trakadis, Y. J. ; Alfares, A. ; Bodamer, O. A....
Journal of Inherited Metabolic Disease. 37 (2013) 3 - p. 461-473 , 2013

Link: https://doi.org/10.1007/..

6

Free asymmetric dimethylarginine (ADMA) is low in children ..:

Huemer, M. ; Simma, B. ; Mayr, D....
Journal of Inherited Metabolic Disease. 35 (2012) 5 - p. 817-821 , 2012

Link: https://doi.org/10.1007/..

7

Expert recommendations for the laboratory diagnosis of MPS ..:

Wood, T. ; Bodamer, O.A. ; Burin, M.G....
Molecular Genetics and Metabolism. 106 (2012) 1 - p. 73-82 , 2012

Link: https://doi.org/10.1016/..

8

Neugeborene mit Herpes-simplex-Virus-Infektionen: Folgen ei..:

Bodamer, O.A.
Monatsschrift Kinderheilkunde. 160 (2012) 4 - p. 325-328 , 2012

Link: https://doi.org/10.1007/..

9

Erratum zu: Angeborene Stoffwechselstörungen: Akute Präsent..:

Bodamer, O.
Monatsschrift Kinderheilkunde. 159 (2011) 1 - p. 24-24 , 2011

Link: https://doi.org/10.1007/..

10

Propionic acidemia: neonatal versus selective metabolic scr..:

Grünert, S. C. ; Müllerleile, S. ; de Silva, L....
Journal of Inherited Metabolic Disease. 35 (2011) 1 - p. 41-49 , 2011

Link: https://doi.org/10.1007/..

11

Mutation analysis in 54 propionic acidemia patients:

Kraus, J. P. ; Spector, E. ; Venezia, S....
Journal of Inherited Metabolic Disease. 35 (2011) 1 - p. 51-63 , 2011

Link: https://doi.org/10.1007/..

12

Magnetic resonance spectroscopy in patients with Fabry and ..:

Gruber, S. ; Bogner, W. ; Stadlbauer, A...
European Journal of Radiology. 79 (2011) 2 - p. 295-298 , 2011

Link: https://doi.org/10.1016/..

13

147 Compound heterozygosity for mutations in TMEM70:

Sperl, W. ; Bodamer, O. ; Möslinger, D....
Mitochondrion. 10 (2010) 2 - p. 241 , 2010

Link: https://doi.org/10.1016/..

14

Angeborene Stoffwechselstörungen: Akute Präsentation und Di..:

Bodamer, O.
Monatsschrift Kinderheilkunde. 158 (2010) 10 - p. 987-996 , 2010

Link: https://doi.org/10.1007/..

15

Erratum to: Prediction of outcome in isolated methylmalonic..:

Hörster, F. ; Garbade, S. F. ; Zwickler, T....
Journal of Inherited Metabolic Disease. 32 (2009) 6 - p. 762-763 , 2009

Link: https://doi.org/10.1007/..