Results 181 to 190 of about 84,845 (281)

Glicogenose Tipo I (Doença de Von Gierke): Relato de Dois Casos com Grave Dislipidemia

Arquivos Brasileiros de Cardiologia
Julia Maria Avelino Ballavenuto, Jéssica D´Ório Dantas de Oliveira, Renato Jorge Alves   +2 more
doaj   +1 more source

Congenital Afibrinogenemia With Coexisting Factor V Leiden Mutation Complicated by Budd-Chiari Syndrome: A Case Report. [PDF]

Cureus
Boutari RA, Hsayan FI, Mallah F, Diab M.
europepmc   +1 more source

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

European Journal of Human Genetics, 2014
Mugdha A Joshi, J. Eagan, N. Desai, S. Newton, Meghan C Towne, N. Marinakis, Kristyn M. Esteves, S. Ferranti, M. Bennett, A. McIntyre, A. Beggs, G. Berry, P. Agrawal   +12 more
semanticscholar   +1 more source

Mauriac Syndrome: Growth and Clinical Outcomes After 2.5 Years of Automated Insulin Delivery Treatment. [PDF]

JCEM Case Rep
Alarab H, Merjaneh L, Eitel KB.
europepmc   +1 more source

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

European Journal of Human Genetics, 2014
M. Vals, E. Õiglane‐Shlik, M. Nõukas, R. Shor, A. Peet, M. Kals, P. Kivistik, A. Metspalu, K. Õunap   +8 more
semanticscholar   +1 more source

Hepatomegaly

, 2009
Dieter Metze, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, Jae-Hwan Nam, Yoichi Matsubara, Keiya Tada, Seda Sancak, Ralf Paschke, Susan Kupka, Stefan K. Plontke, Hans-Peter Zenner, Susan Kupka, Gohar Azhar, Jeanne Y. Wei, Y. James Kang, Katsuhiko Yoshizawa, Abraham Nyska, Graeme Jones, Kathy Triantafilou, Philipp M. Lepper, Alexander K. C. Leung, Johannes G. Bode, Johannes G. Bode, Clifford E. Kashtan, Klaus Schümann, Günter Weiss, Christine Skerka, Christoph Licht, Peter F. Zipfel, Hugo ten Cate, Hugo ten Cate, Hugo ten Cate, Mark Oette, Dieter Häussinger, Isabelle L. Ruel, Patrick Couture, Benoît Lamarche, Sören V. Siegmund, Stephan L. Haas, Manfred V. Singer, Tobias Heintges, Ralf Kubitz, Dieter Häussinger, Andreas Erhardt, Andreas Erhardt, Frank Lammert, Johann Lorenzen, Hubert E. Blum, Darius Moradpour, Ralf Kubitz, Georg Merker, Dieter Häussinger, Matthias Wettstein, Matthias Wettstein, Mónica Guevara, Pere Ginès, Hugo Ten Cate, Alexander K. C. Leung, Ulrich Heininger, Markus Pfister, Hans-Peter Zenner, Marcus Schmitt, Arend F. L. Schinkel, Don Poldermans, Jeroen J. Bax, Heimo Mairbäurl, Peter Bärtsch, Ralf Kubitz, Georg H. Merker, Dieter Häussinger, Percy Chiu, Richard S. Legro, William L. Nyhan, Sandeep S. Dave, Jürgen Kohlhase, Arne W. J. H. Dielis, Hugo ten Cate, S. Harvey Mudd, Christian Simon, Oliver Schildgen, Suncanica Ljubin Sternak, Gordana Mlinaric-Galinovic, Eggert Stockfleth, Ingo Nindl, Inga Zerr, Mathias Bähr, Nicole Stankus, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jonas Denecke, Alexander K. C. Leung, Shoichi Katsuragi, Bodo Grimbacher, Cristina Woellner, Steven Holland, Christian A. Koch, Christian A. Koch, Michael T. Geraghty, Peter L. M. Jansen, Robert P. Whitehead, Edward M. Brown, Mei Bai, T. John Martin, Joaquin Escribano, Victor M. Garca Nieto, Patrick TS Ma, Lucia K Ma, Alexander K. C Leung, Angelika F. Hahn, Mallikarjuna Nallegowda, Upinderpal Singh, Mangajji R. Umapathi, Rakesh Kumar, Hugo ten Cate, Hugo ten Cate, Raffaele Badolato, Benjamin Glaser, Ruth Schreiber, Daniel Landau, Keiya Tada, Yoichi Matsubara, Goo Taeg Oh, Carla Kallen, Joel Michels Topf, Patrick Murray, S. Harvey Mudd, Jaime Tejedor, Mallikarjuna Nallegowda, Upinderpal Singh, Rakesh Kumar, Manish Kumar Varshney, Mallikarjuna Nallegowda, Upinderpal Singh, Rakesh Kumar, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Bernd Hoppe, Albrecht Hesse, Geoffrey N. Hendy, David E. C. Cole, Charles R. Nolan, Haruo Shintaku, Hiroshi Ichinose, Henry J. Mankin, Christian A. Koch, Gabriel I. Uwaifo, Bettina C. Reulecke, Jonas Denecke, Werner Heppt, Annette Cryer, Rade Tomic, Jesse Roman, Jan Rémi, Soheyl Noachtar, Miki Nagase, Toshiro Fujita, Angel Cogolludo, Jason X.-J. Yuan, Lewis J. Rubin, Manning R. Davis, T. Balakrishna Poduval, Saurabh Chatterjee, Hulya Iliksu Gozu, Markus Eszlinger, Rifat Bircan, Ralf Paschke, Hulya Iliksu Gozu, Julia Lüblinghoff, Rifat Bircan, Ralf Paschke, Hulya Iliksu Gozu, Julia Lüblighoff, Rifat Bircan, Roland Pfäffle, Ralf Paschke, Shui-Ping Zhao, Hui-Jun Ye, Jens Mogensen, Rejin Kebudi, Sezer Saglam, Michael A. Becker, John R. Asplin, Keiya Tada, Yoichi Matsubara, Robert W. Gotshall, Christian A. Koch, Hubert Scharnagl, Winfried März, John A. Sayer, Simon H. Pearce, James J. Paparello, Philip J. Klemmer, Abhijit V. Kshirsagar, Patrick T. S. Ma, Lucia K. Ma, Alexander K. C. Leung   +199 more
  +4 more sources

Secondary hemophagocytic lymphohistiocytosis in a patient with severe leptospirosis: a case report. [PDF]

J Med Case Rep
Basurto-Hurtado MR, Becerra-Sepúlveda LO, García-Pérez AP, Granados-Molina EA.   +3 more
europepmc   +1 more source

Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly. [PDF]

Hum Genome Var
Harada M, Onuki T, Nyuzuki H, Suzuki H, Ito K, Hasegawa G, Hayashi H, Tada M, Takenouchi T, Murayama K, Suzuki H.   +10 more
europepmc   +1 more source

Navigating the diagnostic dilemma of neonatal dengue syndrome: a review and report. [PDF]

Matern Health Neonatol Perinatol
Pathak KK, Dalai R, Ghorui A, Chowdhary BK.   +3 more
europepmc   +1 more source

Mullins' syndrome: a new gammopathy-related autoinflammatory syndrome resistant to anakinra [PDF]

, 2015
A.L. Manson, Arend, Gekowski, H.J. Longhurst, Haeffner-Cavaillon, J.D. Cavenagh, M.S. Buckland, Nashan, Okusawa, P.F.K. Yong, Rybojad, S. Grigoriadou, Schindler   +12 more
core   +1 more source