A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents
about
Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistanceFounder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recyclingSevere insulin resistance alters metabolism in mesenchymal progenitor cells.Metreleptin improves blood glucose in patients with insulin receptor mutations.Two novel mutations identified in familial cases with Donohue syndromeA novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia.
P2860
Q33429987-5795B20C-9002-4ABE-B694-4B39DB2EF85CQ33675000-DF574B72-0B07-4B65-BA58-76B2727F5E83Q34768512-984D0D83-4AD8-4225-8EA3-1322020055AFQ35603395-07E66B49-1612-4B35-81C0-7F79028EEC36Q37275992-C095494C-8381-4522-A60A-668AE4D3C236Q37535785-5513C937-D923-4D39-900E-E229685B4CC2Q45382276-2E14D9E6-27D2-427D-963F-F264549CB72B
P2860
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents
description
1993 nî lūn-bûn
@nan
1993 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A syndrome of insulin resistan ...... sibs of consanguineous parents
@ast
A syndrome of insulin resistan ...... sibs of consanguineous parents
@en
A syndrome of insulin resistan ...... sibs of consanguineous parents
@en-gb
A syndrome of insulin resistan ...... sibs of consanguineous parents
@nl
type
label
A syndrome of insulin resistan ...... sibs of consanguineous parents
@ast
A syndrome of insulin resistan ...... sibs of consanguineous parents
@en
A syndrome of insulin resistan ...... sibs of consanguineous parents
@en-gb
A syndrome of insulin resistan ...... sibs of consanguineous parents
@nl
prefLabel
A syndrome of insulin resistan ...... sibs of consanguineous parents
@ast
A syndrome of insulin resistan ...... sibs of consanguineous parents
@en
A syndrome of insulin resistan ...... sibs of consanguineous parents
@en-gb
A syndrome of insulin resistan ...... sibs of consanguineous parents
@nl
P2093
P2860
P356
P1476
A syndrome of insulin resistan ...... sibs of consanguineous parents
@en
P2093
L I al-Gazali
P2860
P356
10.1136/JMG.30.6.470
P407
P577
1993-06-01T00:00:00Z