Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
about
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR geneFirst molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.Two novel mutations identified in familial cases with Donohue syndromePaediatrics, insulin resistance and the kidney.One novel 2.43Kb deletion and one single nucleotide mutation of the INSR gene in a Chinese neonate with Rabson-Mendenhall syndrome.Donohue syndrome: a new case with a new complication.Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.Bartter-like syndrome in patients with molecular defects of the insulin receptor gene.Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations
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P2860
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
description
2013 nî lūn-bûn
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name
Six cases with severe insulin ...... e a feature of congenital SIR?
@en
Six cases with severe insulin resistance
@nl
type
label
Six cases with severe insulin ...... e a feature of congenital SIR?
@en
Six cases with severe insulin resistance
@nl
prefLabel
Six cases with severe insulin ...... e a feature of congenital SIR?
@en
Six cases with severe insulin resistance
@nl
P2093
P2860
P50
P1433
P1476
Six cases with severe insulin ...... e a feature of congenital SIR?
@en
P2093
Carla Monciotti
Carlo Colombo
Dario Iafusco
Franco Cerutti
Franco Meschi
Ivana Rabbone
Ornella Massa
Riccardo Bonfanti
Sara Gombos
Valeria Favalli
P2860
P2888
P304
P356
10.1007/S00592-013-0490-X
P577
2013-07-04T00:00:00Z