Czech-Slovak Pediatrics - Issue 6/2018
365
Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients
A. Čechová, N. Ondrušková, M. Tesařová, H. Hansíková, J. Zeman, T. Honzík
375
A complex view of vitamin B12 deficiency in childhood
K. Brennerová, K. Juríčková, C. Šebová, M. Ostrožlíková, J. Hornová, M. Kolníková, V. Bzdúch
384
Barth syndrome – case history
S. Tárnoková, C. Šebová, K. Brennerová, J. Perečková, P. Kunovský, R. Riedel, M. Ďuranová, V. Bzdúch
390
Newborn screening of inherited metabolic diseases in the Czech Republic
K. Pešková, P. Chrastina, J. Bártl, T. Adam, F. Votava, T. Honzík, V. Kožich
395
Nutritional therapy in patients with inherited metabolic disorders
M. Floriánková, Š. Bláhová, M. Pencová, T. Honzík, P. Ješina
408
Lysosomal storage disorders – development of diagnostic process and treatment in Slovakia
K. Juríčková, S. Mattošová, A. Šalingová, P. Jungová, K. Brennerová, M. Kolníková, Ľ. Košťálová, A. Hlavatá
Czech-Slovak Pediatrics
2018 Číslo 6
Najčítanejšie v tomto čísle
- Characteristic clinical features and laboratory findings of inborn errors of metabolism
- A complex view of vitamin B12 deficiency in childhood
- Newborn screening of inherited metabolic diseases in the Czech Republic
- Lysosomal storage disorders – development of diagnostic process and treatment in Slovakia