Results 121 to 130 of about 6,169 (207)

高インスリン高アンモニア血症の日本人症例におけるグルタミン酸脱水素酵素遺伝子変異スペクトラム [PDF]

博士(医学 ...
麻生, 和良
core  

Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism. [PDF]

J Endocr Soc
Männistö JME, Houghton JAL, Bennett JJ, Keskinen P, Tuomi T, Ruuskanen H, Viikari LA, Jokiniitty A, Lähde J, Raivo J, Otonkoski T, Huopio H, Flanagan SE.   +12 more
europepmc   +1 more source

From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review. [PDF]

Front Pharmacol
Wong T, Chan D, Chua C, Cher W, Lim S, Chandran S, Yap F.   +6 more
europepmc   +1 more source

Germline and somatic mutations in histologically atypical congenital hyperinsulinism. [PDF]

Front Endocrinol (Lausanne)
Larsen AR, Globa E, Andersen DC, Limbert C, Mattsson ÅL, Nielsen AL, Mortensen MB, Hejbøl EK, Brusgaard K, Detlefsen S, Christesen HT.   +10 more
europepmc   +1 more source

Human KATP channelopathies: diseases of metabolic homeostasis [PDF]

, 2009
Timothy M. Olson, Andre Terzic
core   +1 more source

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism. [PDF]

Genet Res (Camb)
Begemann M, Boy JAT, Kraft F, Vossschulte H, Barthlen W, Kummer S, Orlikowsky T, Torosoglu A, Eggermann T, Kurth I, Elbracht M, Pappa A.   +11 more
europepmc   +1 more source

PI3K inhibition with alpelisib: a new hope for congenital hyperinsulinism. [PDF]

Ann Med Surg (Lond)
Ali MR, Khalique A, Abufatima IO.
europepmc   +1 more source

CONGENITAL HYPERINSULINISM (HYPERAMMONEMIA HYPERINSULINISM)

Journal of Evidence Based Medicine and Healthcare, 2015
openaire   +1 more source

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic <i>CHD7</i> variant. [PDF]

JCEM Case Rep
Ibeas C, Giraudo F, Männistö JME, Flanagan SE, Mericq V.   +4 more
europepmc   +1 more source

Utility of continuous glucose monitoring during pancreatic surgery in patients with congenital hyperinsulinism. [PDF]

Front Endocrinol (Lausanne)
Worthington S, Worth C, Auckburally S, Bowler M, Beauve B, O'Shea E, Craigie RJ, Salomon-Estebanez M, Banerjee I.   +8 more
europepmc   +1 more source