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Kusmierska, Katarzyna
49
results:
Search for persons
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Format
Online (49)
Mediatypes
Articles (Online) (22)
OpenAccess-fulltext (27)
Languages
english (39)
polish (5)
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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/..
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2
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/..
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3
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/..
?
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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
1-15