Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Marianne Kaufmann"'
Autor:
Dr. Carolina Diamandis, Ali Shirazi, Corinna Adams, Ralph M West, Marianne Kaufmann, Jonathan Feldman, Marius Lazar, Olga Ivanova, David Seideman, Carolina Diamandis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bad22cb66b1195b2719d7ff19a14650
https://doi.org/10.22541/au.167813533.33400946/v1
https://doi.org/10.22541/au.167813533.33400946/v1
Autor:
Dr. Carolina Diamandis, Ali Shirazi, Riku Honda, Marius Lazar, Fabio Rocha, Jacob Adams, Jonathan Feldman, Alexander Bartels, Marianne Kaufmann, Sven Olsen, Adrian Tudor, Olga Ivanova
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e412667e4fc21ff4f73c476e8ba50d7c
https://doi.org/10.22541/au.167769979.98495967/v1
https://doi.org/10.22541/au.167769979.98495967/v1
Autor:
International H63D Syndrome Research Consortium, LCG Greece Research, Jewish University Of Colorado, Dr. Marianne Kaufmann Association For H63D Patients, N.E.V, Luzia Healthcare, Adams, Jacob, Diamandis, Carolina
Evidence-based medicine has shown for many years that homozygous mutations of the HFE gene H63D are by no means negligible. Not only can it cause, usually after a second hit, rather mild classical hemochromatosis, but it can also cause numerous other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70df07faf0d4d8df836c821ffddf41b4
Herewith the most condensed and at the same time most comprehensible guide to Gene H63D Syndrome is available. It is specifically made for general physicians in primary and family medicine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b22b818aa4b5a93dc816fe862ae8649b
https://doi.org/10.22541/au.163967137.78856688/v1
https://doi.org/10.22541/au.163967137.78856688/v1
In a study on the prevention of injury in patients with H63D syndrome and cataplexy, statistical analysis revealed an unexpected but clinically highly significant finding. Apparently, in this patient population, an inverse correlation exists between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::953e1336c4befbd31ca167aa997b8006
Autor:
Dr. Carolina Diamandis, Jacob S Adams, Riku Honda, Anastasios Papadopoulos, Lucas Smith, Marianne Kaufmann, Marius Lazar, Carolina Diamandis, David Seideman
H63D syndrome is a serious and clinically progressive disorder of iron metabolism caused by non-transferrin-bound iron (NTBI). In 2019, after scientists from around the world joined together to form the H63D Syndrome Research Consortium (a non-profit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f326660ae1adcbf477385a3d00612358
https://doi.org/10.22541/au.162191694.46218714/v1
https://doi.org/10.22541/au.162191694.46218714/v1
H63D syndrome is a phenotype of a homozygous mutation of the HFE gene H63D, which is otherwise known to cause at most mild classical hemochromatosis. H63D syndrome leads to an iron overload in the body (especially in the brain, heart, liver, skin and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f03cd2c6fccdf44e23637bff7ad011ab
https://doi.org/10.21203/rs.3.rs-487488/v1
https://doi.org/10.21203/rs.3.rs-487488/v1
Autor:
Dr. Carolina Diamandis, Dr. David Seideman, Jacob S. Adams, Dr. Marianne Kaufmann, Alexander Davis, MD
H63D syndrome is a unique phenotype (clinical picture) of a homozygous mutation of the HFE gene H63D, which is otherwise known to cause at most mild classical hemochromatosis. H63D syndrome is associated with iron overload in the body (especially in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3519600e811a7b0e233b5b54bf624be
https://doi.org/10.22541/au.162005462.20241654/v1
https://doi.org/10.22541/au.162005462.20241654/v1
Autor:
David Glick, Marianne Kaufmann
Publikováno v:
Experimental Biology and Medicine. 74:279-285
SummaryModifications in the preparation of the substrate for the measurement of hyaluronidase activity by the viscosity method have been described. Increased sensitivity in the measurement of both the enzyme and its inhibitors has resulted, and spont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef5bac2d712f9d7162dcd70436c72e6
https://doi.org/10.3181/00379727-74-17877
https://doi.org/10.3181/00379727-74-17877
