Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

Item
http://www.wikidata.org/entity/Q54466382
Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cellsTwo novel mutations identified in familial cases with Donohue syndromePaediatrics, insulin resistance and the kidney.Importance of (antibody-dependent) complement-mediated serum killing in protection against Bordetella pertussis.Donohue syndrome: A review of literature, case series, and anesthetic considerations.Renal tubular dysfunction in patients with molecular defects of the insulin receptor gene.A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene.Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome.Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.Fifty-Five Years of Pediatric Endocrinology and 50 Years of the Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases in Slovenia.Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations
P2860

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

Item
http://www.wikidata.org/entity/Q54466382
description
2012 nî lūn-bûn
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2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
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2012年學術文章
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name
Severe progressive obstructive ...... due to a novel INSR mutation.
@en
Severe progressive obstructive ...... due to a novel INSR mutation.
@nl
type
label
Severe progressive obstructive ...... due to a novel INSR mutation.
@en
Severe progressive obstructive ...... due to a novel INSR mutation.
@nl
prefLabel
Severe progressive obstructive ...... due to a novel INSR mutation.
@en
Severe progressive obstructive ...... due to a novel INSR mutation.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Severe progressive obstructive ...... due to a novel INSR mutation.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698