Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Annette Molbaek"'
Autor:
Mounira Hmani-Aifa, Zohra Chibani, Peter Söderkvist, Jamel Feki, Annette Molbaek, Imen Zone Abid
Publikováno v:
Clinicalexperimental ophthalmologyREFERENCES. 47(8)
Background Epidemiological studies of hereditary eye diseases allowed us to identify two Tunisian families suffering from macular dystrophies: Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The purpose of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c2b7293329cd429e396436f74ce664
https://pubmed.ncbi.nlm.nih.gov/31254423
https://pubmed.ncbi.nlm.nih.gov/31254423
Publikováno v:
Genetic Testing. 7:13-20
Cystinuria is an autosomal recessive disorder characterized by increased urinary excretion of cystine and dibasic amino acids, which cause recurrent stone formation in affected individuals. Three subtypes of cystinuria have been described (type I, II
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2275d82720b9da541fea2e00b99f99dd
https://doi.org/10.1089/109065703321560886
https://doi.org/10.1089/109065703321560886
Autor:
Erik Fjellstedt, Peter Söderkvist, Lotta Harnevik, Annette Molbaek, Torsten Denneberg, Hans-Göran Tiselius
Publikováno v:
Human Mutation. 18:516-525
Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined b ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de116822534defe8d499af83ce5f96ba
https://doi.org/10.1002/humu.1228
https://doi.org/10.1002/humu.1228