Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Lorenzo Minchiotti"'
Autor:
Martin Litzel, Gianluca Caridi, Francesca Lugani, Monica Campagnoli, Lorenzo Minchiotti, Stefan Fischli
Publikováno v:
Case Reports in Endocrinology, Vol 2020 (2020)
In congenital analbuminemia (CAA), mutations in the albumin gene result in a severe deficiency or absence of plasma albumin. Only about 90 cases have been reported to date, but the specific features of glucose and lipid metabolism in congenital analb
Externí odkaz:
https://doaj.org/article/d01e6a5779d54927a3a48c1f17a547be
Autor:
Lorenzo Minchiotti, Gianluca Caridi, Monica Campagnoli, Francesca Lugani, Monica Galliano, Ulrich Kragh-Hansen
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Congenital analbuminemia (CAA) is an inherited, autosomal recessive disorder with an incidence of 1:1,000,000 live birth. Affected individuals have a strongly decreased concentration, or complete absence, of serum albumin. The trait is usually detect
Externí odkaz:
https://doaj.org/article/e430046ad1554aae837c4bc273f79f12
Publikováno v:
Frontiers in Endocrinology, Vol 8 (2017)
Familial dysalbuminemic hyperthyroxinemia (FDH-T4) and hypertriiodothyroninemia (FDH-T3) are dominantly inherited syndromes characterized by a high concentration of thyroid hormone in the blood stream. The syndromes do not cause disease, because the
Externí odkaz:
https://doaj.org/article/db0fba34091b44d0b7a2b11f7e99143a
Autor:
D Schröpfer, A M de Luca, Lorenzo Minchiotti, Francesca Lugani, Monica Campagnoli, Gianluca Caridi, Monica Galliano, A Farokhnia
Publikováno v:
British Journal of Biomedical Science. 78:154-157
Congenital analbuminaemia (OMIM # 616,000) is a rare autosomal recessive disorder, characterized by the near-complete absence, or very low levels, of serum albumin. The clinical diagnosis is usuall...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d652130150342c86d11b5fc5420d0d47
https://doi.org/10.1080/09674845.2020.1819632
https://doi.org/10.1080/09674845.2020.1819632
Autor:
Gianluca Caridi, Francesca Lugani, Andrea Angeletti, Monica Campagnoli, Monica Galliano, Lorenzo Minchiotti
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 1159, p 1159 (2022)
The human albumin gene, the most abundant serum protein, is located in the long arm of chromosome 4, near the centromere, position 4q11–3. It is divided by 14 intervening introns into 15 exons, the last of which is untranslated. To date, 74 nucleot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d194555da6bbbcfd858552a0e4ce5cde
https://www.mdpi.com/1422-0067/23/3/1159
https://www.mdpi.com/1422-0067/23/3/1159
Autor:
Teresa Troiano, Francesca Lugani, Lorenzo Minchiotti, Patrizia Suppressa, Monica Campagnoli, Concetta Carbonara, Carlo Sabbà
Publikováno v:
World Journal of Clinical Cases
Background Congenital analbuminemia (CAA) is a very rare disorder. Our data describes the clinical features and laboratory results of a new case established by mutation analysis of the albumin gene in a 39-year-old woman presenting with hypercholeste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889cff75342257a33a3b900335f2127c
http://europepmc.org/articles/PMC6397822
http://europepmc.org/articles/PMC6397822
Autor:
Monica Campagnoli, Martin Litzel, Lorenzo Minchiotti, Stefan Fischli, Francesca Lugani, Gianluca Caridi
Publikováno v:
Case Reports in Endocrinology, Vol 2020 (2020)
Case Reports in Endocrinology
Case Reports in Endocrinology
In congenital analbuminemia (CAA), mutations in the albumin gene result in a severe deficiency or absence of plasma albumin. Only about 90 cases have been reported to date, but the specific features of glucose and lipid metabolism in congenital analb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5aaa345ec81f89a71710281ef4d9e15
https://doaj.org/article/d01e6a5779d54927a3a48c1f17a547be
https://doaj.org/article/d01e6a5779d54927a3a48c1f17a547be
Autor:
Mohamed El Amine Abada, Ersin Sayar, Francesca Lugani, Monica Galliano, Lorenzo Minchiotti, Monica Campagnoli, Reha Artan, Abdelbasset Maout, Gianluca Caridi
Publikováno v:
Annals of Laboratory Medicine
PubMed: 29214768 [No abstract available] Compagnia di San Paolo: ROL9849 G.C. and F.L are supported by a grant from “Compagnia di San Paolo” (ROL9849).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9b33134b9551ddf6fe58cccfb3992e9
http://europepmc.org/articles/PMC5736683
http://europepmc.org/articles/PMC5736683
Autor:
Francesca Lugani, Monica Campagnoli, Monica Galliano, Ilidio B.R. de Abreu, José A. Alves, Lorenzo Minchiotti, Gianluca Caridi
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
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Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb30dbfa5b7221cf4d9ad7df818020ab
Autor:
Francesca Lugani, Lorenzo Minchiotti, Patrick Van den Abeele, Valérie Layet, Marie-Sophie Gavard, Brigitte Rigat, Gianluca Caridi, Monica Galliano, Monica Campagnoli
Publikováno v:
European journal of medical genetics. 62(2)
Congenital analbuminemia (OMIM # 616000) is an extremely rare autosomal recessive disorder, caused by variations in the albumin gene (ALB), which is generally thought to be a relatively benign condition in adulthood, but seems to be potentially life
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33ec856ab820e55e5aea1437d9e35fc7
https://pubmed.ncbi.nlm.nih.gov/29981851
https://pubmed.ncbi.nlm.nih.gov/29981851