Donohue syndrome: a review of literature, case series, and anesthetic considerations

A Kirkwood, G Stuart, L Harding - Pediatric Anesthesia, 2018 - Wiley Online Library
Background Donohue syndrome is a rare autosomal recessive disorder of insulin
resistance, causing a functional defect in insulin receptor function, and affecting the ability of …

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a …

T Hovnik, N Bratanič, KT Podkrajšek, J Kovač… - European journal of …, 2013 - Springer
Abstract Donohue syndrome (leprechaunism; OMIM* 246200) is a rare, recessively inherited
disorder of extreme insulin resistance due to mutations in the insulin receptor gene (INSR) …

Two novel mutations identified in familial cases with Donohue syndrome

TC Falik Zaccai, L Kalfon, A Klar… - Molecular genetics & …, 2014 - Wiley Online Library
Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by
mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe …

A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure

S Nobile, RK Semple, VP Carnielli - 2012 - degruyter.com
Donohue syndrome (DS) is a rare autosomal recessive condition caused by mutations in the
gene encoding the insulin receptor. It is characterised by severe metabolic and endocrine …

Le syndrome de Donohue ou lepréchaunisme: à propos d'un cas

D Planchenault, D Martin-Coignard… - Archives de …, 2014 - Elsevier
Résumé Le syndrome de Donohue, ou lepréchaunisme, est un syndrome congénital
d'insulinorésistance sévère caractérisé par un retard de croissance intra-utérin et postnatal …

Areolar sebaceous hyperplasia with underlying primary duct carcinoma of the breast in a woman with Donohue syndrome (leprechaunism)

A Fernandez-Flores, S Valerdiz… - The American Journal …, 2012 - journals.lww.com
Areolar hyperplasia is only reported when exaggerated, and even so, exaggerated areolar
sebaceous hyperplasia is rare. We have recently seen a case of areolar sebaceous …

[PDF][PDF] Amyotrophic lateral sclerosis

C Gaik, T Wiesmann, T Weingarten, D Czell - Anästh Intensivmed, 2023 - ai-online.info
Supplement 1_01-2023_OrphanAnesthesia.indd Page 1 Offizielles Organ: Deutsche Gesellschaft
für Anästhesiologie und Intensivmedizin e. V. (DGAI) Berufsverband Deutscher Anästhesisten e …

Description of the first genetically confirming case with Donahue's syndrome in Russia

YV Tikhonovich, OA Malievsky… - Problems of …, 2016 - probl-endojournals.ru
Description of the first genetically confirming case with Donahue’s syndrome in Russia |
Tikhonovich | Problems of Endocrinology Problems of Endocrinology eng | рус User ISSN …

Streptozotocin ile diyabet oluşturulan sıçanlarda oksidatif stres, diyabet ve TNF-alfa düzeyi üzerine krom ve trigonella foenum-graecumun (Fenugreek) koruyucu …

G Atila - 2014 - acikbilim.yok.gov.tr
Bu çalışma, streptozotocin ile Tip I diyabet oluşturulan sıçanlarda krom ve Trigonella foenum-
graecum'un (TFG) birlikte ve ayrı uygulanmasının oksidatif stres, TNF-α ve diyabet …

Синдром Донахью. Описание клинического случая и краткий обзор литературы

ЮВ Тихонович, ОА Малиевский… - Проблемы …, 2016 - cyberleninka.ru
Cиндром Донахью (лепрехаунизм) редкое аутосомно-рецессивное заболевание,
ассоциированное с мутациями в гене рецептора инсулина (INSR). Частота …