Detalhe da pesquisa
1.
Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.
Osteoporos Int
; 27(12): 3615-3626, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27497815
2.
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene.
Nat Genet
; 7(2): 185-8, 1994 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-7920639
3.
Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy.
Diabetes
; 49(8): 1325-33, 2000 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10923633
4.
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.
Diabetes
; 46(11): 1743-8, 1997 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-9356020
5.
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.
Diabetes
; 48(8): 1652-7, 1999 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10426386
6.
p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.
Diabetes
; 50(12): 2763-9, 2001 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11723059
7.
Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.
Diabetes
; 50(2): 322-8, 2001 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11272143
8.
Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome.
J Clin Endocrinol Metab
; 86(8): 3724-8, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11502802
9.
Severe transient neonatal hyperinsulinism associated with hyperlactataemia in non-asphyxiated infants.
J Pediatr Endocrinol Metab
; 17(2): 203-9, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15055355
10.
Growth in children after bone marrow transplantation for acute myelogenous leukemia as compared to acute lymphocytic leukemia.
J Pediatr Endocrinol Metab
; 9(1): 51-7, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-8887133
11.
A four-year, open-label, multi-center, randomized, two-arm study of Genotropin® in patients with idiopathic short stature: comparison of an individualized, target-driven treatment regimen to standard dosing of Genotropin® - analysis of two-year data.
Horm Res Paediatr
; 80(4): 242-51, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24021297
12.
Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism.
J Pediatr
; 123(4): 637-43, 1993 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8410522
13.
The new highly sensitive adrenocorticotropin assay improves detection of patients with partial adrenocorticotropin deficiency in a short-term metyrapone test.
J Pediatr Endocrinol
; 7(4): 317-24, 1994.
Artigo
em Inglês
| MEDLINE | ID: mdl-7735369
14.
Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder.
J Pediatr
; 119(5): 721-4, 1991 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-1941377
15.
A syndrome of congenital hyperinsulinism and hyperammonemia.
J Pediatr
; 130(4): 661-4, 1997 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-9108870
16.
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.
Hum Mutat
; 14(1): 23-9, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10447255
17.
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.
J Pediatr
; 138(3): 383-9, 2001 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11241047
18.
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.
Hum Mol Genet
; 4(5): 879-86, 1995 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-7633448
19.
Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinism.
J Pediatr
; 131(2): 193-9, 1997 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-9290603
20.
In vitro and in vivo effects of granulocyte colony-stimulating factor on neutrophils in glycogen storage disease type 1B: granulocyte colony-stimulating factor therapy corrects the neutropenia and the defects in respiratory burst activity and Ca2+ mobilization.
Pediatr Res
; 35(1): 84-90, 1994 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-7510873