E-LIB Suche - Ergebnisse für: Ullrich, Kurt

1

Gain-of-function variants in CLCN7 cause hypopigmentation a..:

Polovitskaya, Maya M. ; Rana, Tanushka ; Ullrich, Kurt...
Journal of Biological Chemistry. 300 (2024) 7 - p. 107437 , 2024

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

2

A charitable access program for patients with lysosomal sto..:

Mehta, Atul ; Ramaswami, Uma ; Muenzer, Joseph...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

3

Airway management and perioperative adverse events in child..:

Dohrmann, Thorsten ; Muschol, Nicole M. ; Sehner, Susanne...
Pediatric Anesthesia. 30 (2020) 2 - p. 181-190 , 2020

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

4

Growth charts for patients with Sanfilippo syndrome (Mucopo..:

Muschol, Nicole M. ; Pape, Daniel ; Kossow, Kai...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

5

Natural history of siblings with mucopolysaccharidosis type..:

Gossler, Alexandra ; Koehn, Anja ; Meyer, Ann...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S57-S58 , 2017

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

6

Clinical course in a MPS IIIA patient following hematopoiet..:

Koehn, Anja F. ; Grigull, Lorenz ; Ullrich, Kurt.
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S75-S76 , 2017

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

7

Phenylketonuria: Direct and indirect effects of phenylalani..:

Schlegel, Gudrun ; Scholz, Ralf ; Ullrich, Kurt..
Experimental Neurology. 281 (2016) - p. 28-36 , 2016

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

8

Clinical outcome following hematopoietic stem cell transpla..:

Muschol, Nicole M. ; Köhn, Anja F. ; Ullrich, Kurt.
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S84 , 2016

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

9

Musculoskeletal manifestations in mucopolysaccharidosis typ..:

Schmidt, Mona ; Breyer, Sandra ; Löbel, Ulrike...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

10

Interaction of Glutaric Aciduria Type 1-Related glutaryl-Co..:

Schmiesing, Jessica ; Schlüter, Hartmut ; Ullrich, Kurt...
PLoS ONE. 9 (2014) 2 - p. e87715 , 2014

Link: https://doi.org/10.1371/..

11

Combined D2‐/L2‐hydroxyglutaric aciduria (SLC25A1 deficienc..:

Mühlhausen, Chris ; Salomons, Gajja S. ; Lukacs, Zoltan...
Journal of Inherited Metabolic Disease. 37 (2014) 5 - p. 775-781 , 2014

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

12

Iowa state fair

Iowa and the Midwest experience

Ullrich, Kurt , 2014

Link: https://search.ebscohost..

13

Acute renal proximal tubule alterations during induced meta..:

Thies, Bastian ; Meyer-Schwesinger, Catherine ; Lamp, Jessica...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1832 (2013) 10 - p. 1463-1472 , 2013

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

14

Residual activity and proteasomal degradation of p.Ser298Pr..:

Muschol, Nicole ; Pohl, Sandra ; Meyer, Ann...
American Journal of Medical Genetics Part A. 155 (2011) 7 - p. 1634-1639 , 2011

Link: https://doi.org/10.1002/..

15

Glutaric Aciduria Type 1 Metabolites Impair the Succinate T..:

Lamp, Jessica ; Keyser, Britta ; Koeller, David M....
Journal of Biological Chemistry. 286 (2011) 20 - p. 17777-17784 , 2011

Link: https://doi.org/10.1074/..