Zobrazeno 1 - 10
of 29
pro vyhledávání: '"E, Khallouf"'
Publikováno v:
Archives de Pédiatrie. 6:748-751
Resume Le syndrome hypomagnesemie-hypercalciurie-nephrocalcinose est rare. Il se caracterise par une hypomagnesemie persistante malgre la supplementation, une hypercalciurie, une nephrocalcinose et une insuffisance renale progressive. Nous rapportons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25070c2e56d55a6b3d8d492c2fd284d2
https://doi.org/10.1016/s0929-693x(99)80357-1
https://doi.org/10.1016/s0929-693x(99)80357-1
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 6(7)
Hypomagnesemia-hypercalciuria and nephrocalcinosis is a rare inherited syndrome which is characterized by persistent hypomagnesemia despite supplementation, hypercalciuria, nephrocalcinosis and progressive renal failure.Case 1. A girl was referred at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9b878d2332c33d1c8e6406f9ddd66fee
https://pubmed.ncbi.nlm.nih.gov/10429815
https://pubmed.ncbi.nlm.nih.gov/10429815
Publikováno v:
European journal of endocrinology. 140(1)
Congenital generalized lipoatrophy (CGL) is a syndrome with multiple clinical manifestations and complete atrophy of adipose tissue. The exact mechanism of this disease remains unknown. One hypothesis presupposes an abnormal development of adipocytes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb0931b375143bcab8ba38825a6758b4
https://pubmed.ncbi.nlm.nih.gov/10037260
https://pubmed.ncbi.nlm.nih.gov/10037260
Autor:
C, Vigouroux, E, Khallouf, C, Bourut, J J, Robert, M, de Kerdanet, N, Tubiana-Rufi, S, Fauré, J, Weissenbach, J, Capeau, J, Magré
Publikováno v:
The Journal of clinical endocrinology and metabolism. 82(10)
Lipoatropic diabetes (LD) is a rare recessive autosomal disorder, mainly characterized by lipoatrophy with alterations in lipid metabolism and extreme insulin resistance. To identify molecular defects responsible for this disease, we tested the impli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ff0cdebd3614db5a1d0efb04f0dd7270
https://pubmed.ncbi.nlm.nih.gov/9329383
https://pubmed.ncbi.nlm.nih.gov/9329383
Autor:
O. Lascols, Corinne Vigouroux, Emilie Boutet, J. Capeau, E. Khallouf, Jocelyne Magré, Laurence Slama, Jean-Philippe Bastard, Martine Caron-Debarle, Barbara Antuna-Puente, C. Levy-marchal
Publikováno v:
Diabetes & Metabolism. 36:A12
Introduction Dans les syndromes lipodystrophiques, les mecanismes physiopathologiques reliant la perte de tissu adipeux a l’insulinoresistance severe restent imparfaitement elucides. Neanmoins, le defaut de production des adipokines pourrait jouer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df607c95309c47e78e78763c987a8cb0
https://doi.org/10.1016/s1262-3636(10)70048-3
https://doi.org/10.1016/s1262-3636(10)70048-3
Publikováno v:
Diabetes Research and Clinical Practice. 44:S24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::325ef58a6f3bf15f24ba519a0f2b6f33
https://doi.org/10.1016/s0168-8227(99)90061-x
https://doi.org/10.1016/s0168-8227(99)90061-x
Publikováno v:
Archives de Pédiatrie. 6:S576
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::568b3eb66a75e17c2db045a4290e539b
https://doi.org/10.1016/s0929-693x(99)80550-8
https://doi.org/10.1016/s0929-693x(99)80550-8
Akademický článek
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Autor:
C, Thivolet, E, Khallouf
Publikováno v:
Pediatrie. 44(4)
Experimental results and therapeutic strategies. Insulin-dependent diabetes mellitus (IDDM) results from an autoimmune aggression toward beta cells in genetically predisposed individuals. Examination of the frequency of the different antigens coded b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85f4382c97bc5ed41447c3224f4a50ba
https://pubmed.ncbi.nlm.nih.gov/2677968
https://pubmed.ncbi.nlm.nih.gov/2677968
Autor:
P. Bogalho, O. Trygstad, Frédéric Huet, F. Bonnici, J.-J. Robert, Jacqueline Capeau, Tobias Gedde-Dahl, Didier Lacombe, E. Seemanova, T. E. Khallouf, André Mégarbané, Florin Grigorescu, J. L. Medina, Estevan Luiz da Silveira, Michel Polak, Vanessa R. Panz, C. S. Albott, Marc Delepine, L. Van Maldergem, H. Loret, Stephen O'Rahilly, M. De Kerdanet, Johannes A Maassen, Mark Lathrop, C R Kahn, T. Stephenson, F. H. D'abronzo, J. Magre, N. Tubiana-Rufi, S. Savasta, Alain Verloes
Publikováno v:
Scopus-Elsevier
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American fam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb106566a49403028318f5f5815a5336
http://www.scopus.com/inward/record.url?eid=2-s2.0-18644371065&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-18644371065&partnerID=MN8TOARS
