Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Paula F V Medeiros"'
Autor:
Renata N Velloso, Antonio F Oliveira-Filho, Paula F V Medeiros, Ivna M Aquino, Erika C S Lima, Adriana Bezerra Nunes
Publikováno v:
Journal of the Endocrine Society
Background: Trimethylaminuria (Fish-Odour Syndrome) is a rare metabolic disorder characterized by an unpleasant odour in body secretions similar to rotting fish. The disorder is most commonly caused from mutations affecting the Flavin containing mono
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba9e9066061582929f0174802867d49d
http://europepmc.org/articles/PMC8089748
http://europepmc.org/articles/PMC8089748
Autor:
Paula F V Medeiros, Adriana B. Nunes, Sofia Np Oliveira, Antonio F Oliveira-Filho, Renata N Velloso
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6e216d85a263f61136d728caf2135fc
https://doi.org/10.1530/endoabs.56.p603
https://doi.org/10.1530/endoabs.56.p603
Autor:
Siv Fokstuen, Armand Bottani, Albert Schinzel, Paula F. V. Medeiros, Stylianos E. Antonarakis, Claude Stoll
Publikováno v:
American Journal of Medical Genetics, Vol. 70, No 2 (1997) pp. 130-133
The clinical manifestations of patients with a 22q11.2 deletion are highly variable and mainly include developmental defects of structures derived from the third and fourth pharyngeal pouches. Laryngeal atresia has occasionally been reported in DiGeo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed7d5d1ad895e2d07c0752686c8e2fbf
https://pubmed.ncbi.nlm.nih.gov/9741474
https://pubmed.ncbi.nlm.nih.gov/9741474