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

Impact of citrulline substitution on clinical outcome after..:

Aldrian, Denise ; Waldner, Birgit ; Vogel, Georg F....
Journal of Inherited Metabolic Disease.  47 (2024)  2 - p. 220-229 , 2024
Link: https://doi.org/10.1002/..
 
?
2

Vitamin B12 deficiency - another challenge to expand newbor..:

Stanovský, Samuel ; Bártl, Josef ; Barvíková, Kristýna...
Česko-slovenská pediatrie.  79 (2024)  3 - p. 145-149 , 2024
Link: https://doi.org/10.55095..
 
?
3

Late diagnosis of mucopolysaccharidosis type I in a girl wi..:

Ptáčková, Hana ; Poupětová, Helena ; Vlášková, Hana..
Česko-slovenská pediatrie.  78 (2023)  3 - p. 155-160 , 2023
Link: https://doi.org/10.55095..
 
?
4

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/..
 
?
5

Genetic findings in Czech patients with limb girdle muscula..:

Zídková, Jana ; Kramářová, Tereza ; Kopčilová, Johana...
Clinical Genetics.  104 (2023)  5 - p. 542-553 , 2023
Link: https://doi.org/10.1111/..
 
?
6

Hepatocellular carcinoma in an infant with tyrosinemia type..:

Kelifová, Silvie ; Honzík, Tomáš ; Tesařová, Markéta...
Česko-slovenská pediatrie.  78 (2023)  3 - p. 161-165 , 2023
Link: https://doi.org/10.55095..
 
?
7

Complex metabolic disharmony in PMM2-CDG paves the way to n..:

Himmelreich, Nastassja ; Kikul, Frauke ; Zdrazilova, Lucie...
Molecular Genetics and Metabolism.  139 (2023)  3 - p. 107610 , 2023
Link: https://doi.org/10.1016/..
 
?
8

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/..
 
?
9

Case report: A rare variant m.4135T>C in the MT-ND1 gene le..:

Rákosníková, Tereza ; Kelifová, Silvie ; Štufková, Hana...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
?
10

Inherited disorders of carbohydrate metabolism:

Honzík, Tomáš ; Zeman, Jiří
Česko-slovenská pediatrie.  78 (2023)  3 - p. 141-154 , 2023
Link: https://doi.org/10.55095..
 
?
11

Hematopoietic stem cell transplantation in children with in..:

Formánková, Renata ; Říha, Petr ; Keslová, Petra...
Česko-slovenská pediatrie.  77 (2022)  5 - p. 276-283 , 2022
Link: https://doi.org/10.55095..
 
?
12

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd C ; Sokolová, Jitka...
Redox Biology.  58 (2022)  - p. 102517 , 2022
Link: https://doi.org/10.1016/..
 
?
13

Oxygen consumption measurements of cryopreserved PBMCs as a..:

Korandová, Zuzana ; Koňaříková, Eliška ; Pecina, Petr...
Biochimica et Biophysica Acta (BBA) - Bioenergetics.  1863 (2022)  - p. 148855 , 2022
Link: https://doi.org/10.1016/..
 
?
14

Inborn errors of amino acid, organic acid metabolism and di..:

Honzík, Tomáš ; Zeman, Jiří
Česko-slovenská pediatrie.  77 (2022)  6 - p. 370-382 , 2022
Link: https://doi.org/10.55095..
 
?
15

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syn..:

Štufková, Hana ; Kolářová, Hana ; Lokvencová, Kateřina...
Genes.  13 (2022)  7 - p. 1245 , 2022
Link: https://doi.org/10.3390/..
 
1-15