E-LIB Suche - Ergebnisse für: Kusmierska, Katarzyna

1

Corrigendum to: Prevalence of DDC genotypes in patients wit..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism. 139 (2023) 4 - p. 107647 , 2023

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

2

Prevalence of DDC genotypes in patients with aromatic L-ami..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107624 , 2023

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

3

Dietary Intake and Circulating Amino Acid Concentrations in..:

Ambroszkiewicz, Jadwiga ; Gajewska, Joanna ; Mazur, Joanna...
Nutrients. 15 (2023) 6 - p. 1376 , 2023

Link: https://doi.org/10.3390/..

4

Molecular Background and Disease Prevalence of Biotinidase ..:

Jezela-Stanek, Aleksandra ; Suchoń, Lidia ; Sobczyńska-Tomaszewska, Agnieszka...
Genes. 13 (2022) 5 - p. 802 , 2022

Link: https://doi.org/10.3390/..

5

The novel P330L pathogenic variant of aromatic amino acid d..:

Bisello, Giovanni ; Kusmierska, Katarzyna ; Verbeek, Marcel M....
Cellular and Molecular Life Sciences. 79 (2022) 6 - p. , 2022

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

6

Proteins Structure Models in the Evaluation of Novel Varian..:

Jezela-Stanek, Aleksandra ; Blaz, Witold ; Gora, Artur...
Diagnostics. 10 (2020) 10 - p. 821 , 2020

Link: https://doi.org/10.3390/..

7

Serum amino acid profile in patients with Parkinson's disea..:

Figura, Monika ; Kuśmierska, Katarzyna ; Bucior, Ewelina...
PLOS ONE. 13 (2018) 1 - p. e0191670 , 2018

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

8

Evaluation of serum amino acid profile in patients with adv..:

Figura, Monika ; Kusmierska, Katarzyna ; Bucior, Ewelina...
Parkinsonism & Related Disorders. 22 (2016) - p. e35-e36 , 2016

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

9

Phenotypic features of children with neurodevelopmental dis..:

Szymańska, Krystyna ; Kuśmierska, Katarzyna ; Nowacka, Maria..
Respiratory Physiology & Neurobiology. 209 (2015) - p. 124-132 , 2015

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

10

The Analysis of Genetic Aberrations in Children with Inheri..:

Szymańska, Krystyna ; Szczałuba, Krzysztof ; Ługowska, Agnieszka...
BioMed Research International. 2014 (2014) - p. 1-8 , 2014

Link: https://doi.org/10.1155/..

11

Clinical improvement of the aggressive neurobehavioral phen..:

Derwińska, Katarzyna ; Mierzewska, Hanna ; Goszczańska, Alicja...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 159B (2012) 2 - p. 236-242 , 2012

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

12

Sepiapterin reductase deficiency: A Treatable Mimic of Cere..:

Friedman, Jennifer ; Roze, Emmanuel ; Abdenur, Jose E....
Annals of Neurology. 71 (2012) 4 - p. 520-530 , 2012

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

13

Urgent metabolic service improves survival in long‐chain 3‐..:

Sykut‐Cegielska, Jolanta ; Gradowska, Wanda ; Piekutowska‐Abramczuk, Dorota...
Journal of Inherited Metabolic Disease. 34 (2010) 1 - p. 185-195 , 2010

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

14

Novel MRI and clinical findings in a boy with adenylosuccin..:

Bekiesinska-Figatowska, Monika ; Szymanska, Krystyna ; Schmidt-Sidor, Bogna...
European Journal of Radiology Extra. 71 (2009) 1 - p. e3-e5 , 2009

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

15

Adenylosuccinate lyase deficiency: The first identified pol..:

Jurkiewicz, Elżbieta ; Mierzewska, Hanna ; Kuśmierska, Katarzyna
Brain and Development. 29 (2007) 9 - p. 600-602 , 2007

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