المؤلفون: Chen, Hongrui¹ (AUTHOR), Sun, Bin¹ (AUTHOR), Gao, Wei¹ (AUTHOR), Qiu, Yajing¹ (AUTHOR), Hua, Chen¹ (AUTHOR) worson78@163.com, Lin, Xiaoxi¹ (AUTHOR) linxiaoxi@126.com

المصدر: Orphanet Journal of Rare Diseases. 7/14/2023, Vol. 18 Issue 1, p1-11. 11p.

مصطلحات موضوعية: *LIPOMATOSIS, *DELETION mutation, *MISSENSE mutation, *GENETIC profile, *PHENOTYPES, *MAGNETIC resonance imaging

المؤلفون: Hongrui Chen, Bin Sun, Wei Gao, Yajing Qiu, Chen Hua, Xiaoxi Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Facial infiltrating lipomatosis, PIK3CA mutations, Phenotypes, Genotypes, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/00f99b3db9ce4077a7b2f49a77bd0bb0Test

المؤلفون: Lemaitre, Madleen^1,2 (AUTHOR) madleen.lemaitre@chru-lille.fr, Chevalier, Benjamin^1,2 (AUTHOR), Jannin, Arnaud^1,2 (AUTHOR), Le Mapihan, Kristell¹ (AUTHOR), Boury, Samuel³ (AUTHOR), Lion, Georges³ (AUTHOR), Labalette, Myriam^2,4 (AUTHOR), Vantyghem, Marie-Christine^1,2,5 (AUTHOR) mc-vantyghem@chru-lille.fr

المصدر: Orphanet Journal of Rare Diseases. 6/29/2021, Vol. 16 Issue 1, p1-12. 12p.

مصطلحات موضوعية: *LIPOMATOSIS, *LYMPHOCYTE subsets, *PHENOTYPES, *ADIPOSE tissues, *KILLER cells, *T cells, *LYMPHOCYTE count

المؤلفون: Madleen Lemaitre, Benjamin Chevalier, Arnaud Jannin, Kristell Le Mapihan, Samuel Boury, Georges Lion, Myriam Labalette, Marie-Christine Vantyghem

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Lipodystrophy, Dercum’s disease, Roch-Leri, Lipomatosis, Basophil, Natural killer, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/363a6000acf04b23bdff38f2303fc582Test

المؤلفون: Mattman, Andre, Nadeau, Elizabeth, Mezei, Michelle M., Cresswell, Mark, Zhao, Sida, Bosdet, Taryn, Sin, Don D., Guenette, Jordan A., Dupuis, Isabelle, Allin, Emily, Clarke, David C.

المصدر: Orphanet Journal of Rare Diseases; 1/10/2022, Vol. 17 Issue 1, p1-2, 2p

مصطلحات موضوعية: KETOGENIC diet, DIET in disease, GENETIC mutation, LIPOMATOSIS, PHENOTYPES

المؤلفون: Bucciol, Giorgia, Cassiman, David, Roskams, Tania, Renard, Marleen, Hoffman, Ilse, Witters, Peter, Schrijvers, Rik, Schaballie, Heidi, Bosch, Barbara, Putti, Maria Caterina, Gheysens, Olivier, Knops, Noel, Gewillig, Marc, Mekahli, Djalila, Pirenne, Jacques, Meyts, Isabelle

المصدر: Orphanet Journal of Rare Diseases; 5/2/2018, Vol. 13 Issue 1, pN.PAG-N.PAG, 1p

مصطلحات موضوعية: HEPATOPULMONARY syndrome, LIVER transplantation, LIVER diseases, SHWACHMAN-Diamond Syndrome, VITAMIN A in the body, THERAPEUTICS, BONE marrow diseases, COMPARATIVE studies, RESEARCH methodology, MEDICAL cooperation, RESEARCH, VITAMIN A, EVALUATION research, EXOCRINE pancreatic insufficiency, LIPOMATOSIS, DISEASE complications