Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

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A Case Series: Congenital Hyperinsulinism Congenital hyperinsulinism: diagnostic and management challenges in a developing country - case report.

P2860

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P2860

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

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http://www.wikidata.org/entity/Q41949686

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2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

2013年论文

@zh

2013年论文

@zh-cn

name

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

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type

Item

label

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

@en

prefLabel

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

@en

P1476

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism

@en

P2093

Fabian Yap Kok Peng

http://www.w3.org/2001/XMLSchema#string

Kenneth T E Chang

http://www.w3.org/2001/XMLSchema#string

Khalid Hussain

http://www.w3.org/2001/XMLSchema#string

Suresh Chandran

http://www.w3.org/2001/XMLSchema#string

Victor Samuel Rajadurai

http://www.w3.org/2001/XMLSchema#string

Yap Te Lu

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P2860

Neonatal hypoglycemia and occipital cerebral injury.

Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

The molecular mechanisms, diagnosis and management of congenital hyperinsulinism

The laparoscopic approach toward hyperinsulinism in children.

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

Intraindividual comparison of 68Ga-DOTA-TATE and 18F-DOPA PET in patients with well-differentiated metastatic neuroendocrine tumours.

P304

130041

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P31

scholarly article

case report

P356

10.1530/EDM-13-0041

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P478

2013

http://www.w3.org/2001/XMLSchema#string

P50

Sian Ellard

Sarah E Flanagan

P577

2013-11-08T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

24616771

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P921

birth defect

P932

3922076

http://www.w3.org/2001/XMLSchema#string

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

about

P2860

P2860

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P921

P932