Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Małgorzata Średzińska"'
Autor:
Edyta Szymańska, Małgorzata Średzińska, Agnieszka Ługowska, Magdalena Pajdowska, Dariusz Rokicki, Anna Tylki-Szymańska
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 33-35 (2015)
Introduction: Biotinidase deficiency (BTD) is an inborn error of biotin metabolism inherited as an autosomal recessive trait. Due to the, biotinidase deficiency, biotin is not recycled. Individuals with BTD usually exhibit neurological and cutaneous
Externí odkaz:
https://doaj.org/article/58b645a79f0f44c983302283a8133b25
Autor:
Edyta Szymanska, Malgorzata Sredzinska, Elzbieta Ciara, Dorota Piekutowska-Abramczuk, Rafal Ploski, Dariusz Rokicki, Anna Tylki-Szymanska
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 48-50 (2015)
Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the HPD gene encoding 4-hydroxyphenyl-pyruvate dioxygenase, which is transmitted in an autosomal recessive trait. The disorder is characterized by tyrosine
Externí odkaz:
https://doaj.org/article/f1b89d0142994cadbdf5a3c176ebd958