Results 111 to 120 of about 6,169 (207)

Reversible Pulmonary Hypertension in an Infant Treated with Diazoxide [PDF]

Asia Pacific Journal of Medical Toxicology, 2014
Background: Diazoxide is the main therapeutic agent for congenital hyperinsulinism. The drug is generally well tolerated; however, in this report severe adverse effects including heart failure (HF) and pulmonary hypertension (PH) in an infant are ...
Masoud Dehdashtian
doaj  

Control of Kir channel gating by cytoplasmic domain interface interactions [PDF]

, 2017
Alekseev, Alekseev, Amorós, Antcliff, Bichet, Bushman, Bushman, Clarke, Colin G. Nichols, Drain, Dürr, Enkvetchakul, Enkvetchakul, Enkvetchakul, Eswar, Gloyn, Gribble, Hansen, Hibino, Hilgemann, Huang, Inagaki, Inagaki, Jiang, Koster, Koster, Kumar, Kuo, Kurata, Lederer, Lee, Lee, Lin, Lin, Lin, Linder, Loechner, Lopatin, Lopes, Loussouarn, Loussouarn, Lu, Martin, Nichols, Nichols, Nichols, Nichols, Proks, Proks, Qin, Qin, Qin, Qin, Remedi, Ribalet, Ribalet, Schwalbe, Shimomura, Shizhen Wang, Shyng, Shyng, Shyng, Shyng, Shyng, Shyng, Sievers, Sobolevsky, Sobolevsky, Suh, Sunjoo Lee, Tao, Trapp, Trapp, Whorton, William F. Borschel, Zhang, Zhu, Zubcevic   +77 more
core   +2 more sources

Синдромна характеристика спадкової ендокринної патології. [PDF]

, 2014
Резюме. В огляді наведено коротку клінічну характеристику деяких синдромів ендокринної патології, основу яких складають спадкові чинники. Для позначення нозологічних форм зазначено ОМІМ згідно з існуючою класифікацією, тип успадкування, групи генів, що ...
В.П. Пішак, М.О. Ризничук
core  

Congenital Hyperinsulinism

Seminars in pediatric surgery, 2011
Xiao, Xinhua, Chen, Si
  +7 more sources

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers [PDF]

, 2015
Alena Welters, Burak Salgin, Christian Lerch, Ertan Mayatepek, Jan Marquard, Sebastian Kummer, Thomas Meissner   +6 more
core   +1 more source

Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights [PDF]

, 2017
Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by mutations in the SLC2A2 gene coding for the glucose transporter protein 2 (GLUT2).
Bensman, Albert, Boffa, Jean-Jacques, Brocheriou, Isabelle, Devuyst, Olivier, Mihout, Fabrice, Mohebbi, Nilufar, Plaisier, Emmanuelle, Ridel, Christophe, Ronco, Pierre, Wagner, Carsten A.   +9 more
core  

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage [PDF]

, 2015

core   +1 more source

Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series

Journal of Medical Case Reports
Background Congenital hyperinsulinism is a rare disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. One genetic subtype, hyperinsulinism–hyperammonemia syndrome, results from activating mutations in the GLUD1 ...
Miral M. Abdulghfar, Afaf Alsagheir, Ismail A. Abdullah, Raghad Alhuthil   +3 more
doaj   +1 more source

Congenital Hyperinsulinism [PDF]

, 2020
openaire   +2 more sources

Congenital central hypoventilation syndrome with hyperinsulinemia in an infant [PDF]

, 2015
Andrew Wilson, Glynis Price, Maree Grant, Martin de Bock, Shripada Rao, Uma Ganti   +5 more
core   +1 more source