-
1
-
-
0001118413
-
Idiopathic spontaneously occurring hypoglycemia in infants; clinical significance of problem and treatment
-
McQuarrie I 1954 Idiopathic spontaneously occurring hypoglycemia in infants; clinical significance of problem and treatment.AMA Am J Dis Child 87:399-428
-
(1954)
AMA Am J Dis Child
, vol.87
, pp. 399-428
-
-
McQuarrie, I.1
-
2
-
-
0015104472
-
β-Cell nesidioblastosis in idiopathic hypoglycemia of infancy
-
Yakovac WC, Baker L, Hummeler K 1971 β-Cell nesidioblastosis in idiopathic hypoglycemia of infancy. J Pediatr 79:226-231
-
(1971)
J Pediatr
, vol.79
, pp. 226-231
-
-
Yakovac, W.C.1
Baker, L.2
Hummeler, K.3
-
4
-
-
22344443114
-
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery
-
DOI 10.1056/NEJMoa043690
-
Service GJ, Thompson GB, Service FJ, Andrews JC, Collazo-Clavell ML, Lloyd RV 2005 Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. N Engl J Med 353:249-254 (Pubitemid 41058324)
-
(2005)
New England Journal of Medicine
, vol.353
, Issue.3
, pp. 249-254
-
-
Service, G.J.1
Thompson, G.B.2
Service, F.J.3
Andrews, J.C.4
Collazo-Clavell, M.L.5
Lloyd, R.V.6
-
5
-
-
0031942583
-
Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant
-
Thornton PS, Satin-Smith MS, Herold K, Glaser B, Chiu KC, Nestorowicz A, Permutt MA, Baker L, Stanley CA 1998 Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J Pediatr 132:9-14
-
(1998)
J Pediatr
, vol.132
, pp. 9-14
-
-
Thornton, P.S.1
Satin-Smith, M.S.2
Herold, K.3
Glaser, B.4
Chiu, K.C.5
Nestorowicz, A.6
Permutt, M.A.7
Baker, L.8
Stanley, C.A.9
-
6
-
-
4544344374
-
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the β-cell sulfonylurea receptor
-
DOI 10.1210/jc.2004-0441
-
Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA 2004 Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the β-cell sulfonylurea receptor. J Clin Endocrinol Metab 89:4450-4456 (Pubitemid 39244453)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.9
, pp. 4450-4456
-
-
Magge, S.N.1
Shyng, S.-L.2
MacMullen, C.3
Steinkrauss, L.4
Ganguly, A.5
Katz, L.E.L.6
Stanley, C.A.7
-
7
-
-
79955614474
-
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia
-
22 May doi:10.1111/j.1399-0004.2010.01476.x
-
Flanagan S, Kapoor R, Banerjee I, Hall C, Smith V, Hussain K, Ellard S 22 May 2010 Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. Clin Genet doi:10.1111/j.1399- 0004.2010.01476.x
-
(2010)
Clin Genet
-
-
Flanagan, S.1
Kapoor, R.2
Banerjee, I.3
Hall, C.4
Smith, V.5
Hussain, K.6
Ellard, S.7
-
8
-
-
67650221414
-
3-Hydroxyacyl-coenzyme Adehydrogenase deficiency and hyper-insulinemic hypoglycemia: Characterization of a novel mutation and severe dietary protein sensitivity
-
Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K 2009 3-Hydroxyacyl-coenzyme Adehydrogenase deficiency and hyper-insulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab 94:2221-2225
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 2221-2225
-
-
Kapoor, R.R.1
James, C.2
Flanagan, S.E.3
Ellard, S.4
Eaton, S.5
Hussain, K.6
-
9
-
-
48749109863
-
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations
-
Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA 2008 Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest 118:2877-2886
-
(2008)
J Clin Invest
, vol.118
, pp. 2877-2886
-
-
Pinney, S.E.1
MacMullen, C.2
Becker, S.3
Lin, Y.W.4
Hanna, C.5
Thornton, P.6
Ganguly, A.7
Shyng, S.L.8
Stanley, C.A.9
-
10
-
-
79952286483
-
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees
-
Flanagan SE, Patch A-M, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S 2011 Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab 96:E498-E502
-
(2011)
J Clin Endocrinol Metab
, vol.96
-
-
Flanagan, S.E.1
Patch, A.-M.2
Locke, J.M.3
Akcay, T.4
Simsek, E.5
Alaei, M.6
Yekta, Z.7
Desai, M.8
Kapoor, R.R.9
Hussain, K.10
Ellard, S.11
-
11
-
-
77957760755
-
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase
-
Li C, Chen P, Palladino A, Narayan S, Russell LK, Sayed S, Xiong G, Chen J, Stokes D, Butt YM, Jones PM, Collins HW, Cohen NA, Cohen AS, Nissim I, Smith TJ, Strauss AW, Matschinsky FM, Bennett MJ, Stanley CA 2010 Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem 285:31806-31818
-
(2010)
J Biol Chem
, vol.285
, pp. 31806-31818
-
-
Li, C.1
Chen, P.2
Palladino, A.3
Narayan, S.4
Russell, L.K.5
Sayed, S.6
Xiong, G.7
Chen, J.8
Stokes, D.9
Butt, Y.M.10
Jones, P.M.11
Collins, H.W.12
Cohen, N.A.13
Cohen, A.S.14
Nissim, I.15
Smith, T.J.16
Strauss, A.W.17
Matschinsky, F.M.18
Bennett, M.J.19
Stanley, C.A.20
more..
|