I agree that this site is using cookies. You can find further informations here.
X
Freisinger, P.
127  results:
Search for persons X
?
1

Citrin deficiency mimicking mitochondrial depletion syndrom:

Grünert, S. C. ; Schumann, A. ; Freisinger, P....
BMC Pediatrics.  20 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
?
2

Decreased plasma l-arginine levels in organic acidurias (MM..:

Molema, Femke ; Gleich, Florian ; Burgard, Peter...
Molecular Genetics and Metabolism.  126 (2019)  4 - p. 397-405 , 2019
Link: https://doi.org/10.1016/..
 
?
3

MRI and 1H-MRS in adenosine kinase deficiency:

Staufner, C. ; Blom, H. J. ; Dionisi-Vici, C....
Neuroradiology.  58 (2016)  7 - p. 697-703 , 2016
Link: https://doi.org/10.1007/..
 
?
4

PP03.1 – 3059: Mutations in ECHS1: A defect in a multifunct..:

Freisinger, P. ; Haack, T.B. ; Kölker, S....
European Journal of Paediatric Neurology.  19 (2015)  - p. S36 , 2015
Link: https://doi.org/10.1016/..
 
?
5

Thiamine-pyrophosphokinase-deficiency: Clinical and genotyp..:

Freisinger, P. ; Mayr, J.A. ; Scheffner, T....
Mitochondrion.  13 (2013)  6 - p. 921 , 2013
Link: https://doi.org/10.1016/..
 
?
6

Cofactor defects as a cause of mitochondrial encephalomyopa..:

Mayr, J.A. ; Freisinger, P. ; Haack, T....
Mitochondrion.  13 (2013)  6 - p. 908 , 2013
Link: https://doi.org/10.1016/..
 
?
7

Phenotypic spectrum of 7 patients and 4 novel MTFMT mutatio..:

Freisinger, P. ; Haack, T. ; Mayr, J....
Mitochondrion.  13 (2013)  6 - p. 920 , 2013
Link: https://doi.org/10.1016/..
 
?
8

Exome sequencing as an approach to identify disease causing..:

Haack, T. ; Strom, T. ; Freisinger, P....
Mitochondrion.  13 (2013)  6 - p. 920 , 2013
Link: https://doi.org/10.1016/..
 
?
9

Zerebrale magnetresonanztomographische Signalauffälligkeite..:

Scheffner, T. ; Dütting, T. ; Eßlinger, M..
Monatsschrift Kinderheilkunde.  161 (2013)  11 - p. 984-986 , 2013
Link: https://doi.org/10.1007/..
 
?
10

Bezafibrate as treatment option in patients with mitochondr..:

Freisinger, P. ; Haberberger, B. ; Strecker, V....
Mitochondrion.  13 (2013)  6 - p. 920-921 , 2013
Link: https://doi.org/10.1016/..
 
?
11

Mitochondriopathien: Ein Update:

Sperl, W. ; Prokisch, H. ; Karall, D...
Monatsschrift Kinderheilkunde.  159 (2011)  9 - p. 848-854 , 2011
Link: https://doi.org/10.1007/..
 
?
12

Large-scale mutation screening in combination with lentivir..:

Prokisch⁎, H. ; Haack, T. ; Madignier, F....
Mitochondrion.  11 (2011)  4 - p. 660 , 2011
Link: https://doi.org/10.1016/..
 
?
13

Identification of a novel compound heterozygote SCO2 mutati..:

Knuf, M ; Faber, J ; Huth, R G...
Acta Paediatrica.  96 (2006)  1 - p. 130-132 , 2006
Link: https://doi.org/10.1111/..
 
?
14

Reversion of hypertrophic cardiomyopathy in a patient with ..:

Freisinger, P. ; Horvath, R. ; Macmillan, C...
Journal of Inherited Metabolic Disease.  27 (2004)  1 - p. 67-79 , 2004
Link: https://doi.org/10.1023/..
 
?
15

Congenital cataract, muscular hypotonia, developmental dela..:

Horváth, R. ; Freisinger, P. ; Rubio, R....
Journal of Inherited Metabolic Disease.  28 (2004)  4 - p. 479-492 , 2004
Link: https://doi.org/10.1007/..
 
1-15