Detalhe da pesquisa
1.
Low-dose diazoxide is safe and effective in infants with transient hyperinsulinism.
Clin Endocrinol (Oxf)
; 100(2): 132-137, 2024 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38059644
2.
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Hum Genet
; 142(5): 697-704, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-36773065
3.
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Pediatr Diabetes
; 23(4): 457-461, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35294086
4.
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.
Clin Endocrinol (Oxf)
; 94(3): 399-412, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33345357
5.
Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multicentre study in the United Kingdom.
Clin Endocrinol (Oxf)
; 91(6): 770-775, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31520536
6.
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.
Clin Endocrinol (Oxf)
; 90(5): 766-769, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30776145
7.
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.
Endocr Connect
; 12(4)2023 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35951311
8.
Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus.
Front Endocrinol (Lausanne)
; 14: 1231043, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38027197
9.
Insight into hypoglycemia frequency in congenital hyperinsulinism: evaluation of a large UK CGM dataset.
BMJ Open Diabetes Res Care
; 10(3)2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35675953
10.
The hypoglycaemia error grid: A UK-wide consensus on CGM accuracy assessment in hyperinsulinism.
Front Endocrinol (Lausanne)
; 13: 1016072, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36407313
11.
Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism-The UK Perspective.
J Endocr Soc
; 6(6): bvac033, 2022 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35592516
12.
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
Eur J Endocrinol
; 186(4): 417-427, 2022 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35089870
13.
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Nat Genet
; 54(11): 1615-1620, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36333503
14.
Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1.
Endocrinol Diabetes Metab Case Rep
; 20212021 Jan 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33431709
15.
Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion.
Horm Res Paediatr
; 93(6): 396-401, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33040071
16.
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
PLoS One
; 15(2): e0228417, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32027664
17.
Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children.
Horm Res Paediatr
; 91(3): 216-220, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30092575
18.
The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia.
Horm Res Paediatr
; 91(1): 56-61, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30114684
19.
Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation.
Endocrinol Diabetes Metab Case Rep
; 20192019 Feb 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30753133
20.
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.
Eur J Endocrinol
; 181(2): 121-128, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31137009