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Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up

Journal of Pediatric Endocrinology and Metabolism, 2024-02, Vol.37 (2), p.189-191

2024

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Neonatal diabetes mellitus May Offer the Missing Link to monogenic diabetes in family members: A case report

Journal of clinical and translational endocrinology case reports, 2024-06, Vol.32, p.100171, Article 100171

2024

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ABCC8 haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemia

Clinical Pediatric Endocrinology, 2024, pp.2024-0038

2024

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Persistent Hyperinsulinemic Hypoglycemia in Infancy-A Case Report

Journal of Nepal Paediatric Society, 2021-05, Vol.41 (1), p.107-110

2021

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Heterogeneous nature of diabetes in a family with a gain-of-function mutation in the ATP-binding cassette subfamily C member 8 (ABCC8) gene

ENDOCRINE JOURNAL, 2018, Vol.65 (10), p.1055-1059

2018

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Corrigendum: Genetic association of wool quality characteristics in United States Rambouillet sheep

Frontiers in genetics, 2024-09, Vol.15, p.1471185

2024

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Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience

Clinical Pediatric Endocrinology, 2024, Vol.33(3), pp.187-194

2024

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Clinical management of diazoxide-unresponsive congenital hyperinsulinism: a single-center experience

Clinical Pediatric Endocrinology, 2024, pp.2024-0004

2024

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THE LACK OF CORRELATION IN TYPE 2 DIABETES MELLITUS BETWEEN NON-CPG METHYLATION AND DIABETES RISK FACTORS, LIPID PROFILE, KIDNEY FUNCTION TEST, HBA1C, AND RANDOM BLOOD SUGAR

Science journal of University of Zakho (Online), 2024-06, Vol.12 (2), p.268-276

Smail, Harem O.

2024

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Relationship between the efficacy of sulfonylurea therapy and structural variants of the ABCC8 (rs757110) and KCNJ11 (rs5219) genes in patients with type 2 diabetes mellitus with different phenotypes

Sibirskiĭ nauchnyĭ medit︠s︡inskiĭ zhurnal, 2024-04, Vol.44 (2), p.96-105

2024

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842-P: Development of Long-Acting GLP-1 Receptor Antagonist for the Treatment of Congenital Hyperinsulinism

Diabetes (New York, N.Y.), 2023-06, Vol.72 (Supplement_1), p.1

2023

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

Human mutation, 2009-02, Vol.30 (2), p.170-180

2009

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Erster Krampfanfall im Säuglingsalter

Monatsschrift Kinderheilkunde, 2021-05, Vol.169 (5), p.461-464

2021

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Identification of SNP rs1799854 ABCC8 gene and blood glucose levels in patients with type 2 diabetes mellitus at Moewardi hospital Surakarta Solo

Pharmaciana, 2021-11, Vol.11 (3), p.338-346

2021

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Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8

The journal of clinical endocrinology and metabolism, 2023-10, Vol.108 (11), p.e1316-e1328

2023

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Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience

The journal of maternal-fetal & neonatal medicine, 2023-12, Vol.36 (2), p.2272014-2272014

2023

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Case report: Maturity-Onset Diabetes of the Young (MODY12) caused by ABCC8 gene mutations

International journal of diabetes in developing countries, 2023-10, Vol.43 (5), p.781-784

2023

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Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes

Journal of diabetes, 2021-07, Vol.13 (7), p.542-553

2021

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Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia

BMC endocrine disorders, 2024-01, Vol.24 (1), p.8-8, Article 8

2024

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287-OR: An ABCC8 R1420H Loss-of-Function Variant Affects Insulin Secretory Function and Microvascular Disease in American Indians

Diabetes (New York, N.Y.), 2023-06, Vol.72 (Supplement_1), p.1

2023

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An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population

Ophthalmic genetics, 2024-03, Vol.45 (2), p.1-132

2024

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Clinical Case Report of Non-Diabetic Hypoglycemia Due to a Combination of Germline Mutations in the MEN1 and ABCC8 Genes

Genes, 2023-10, Vol.14 (10), p.1952

2023

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Diabetes Mellitus was Definitively Diagnosed after the Birth of the Second Child in A Case With an ABCC8 Pathogenic Variant

Journal of the Japan Diabetes Society, 2024/02/29, Vol.67(2), pp.57-63

2024

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第2子の出産後にABCC8遺伝子病的バリアントによる糖尿病を発症したと考えられる1例

糖尿病, 2024/02/29, Vol.67(2), pp.57-63

2024

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Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up

Neonatal diabetes mellitus May Offer the Missing Link to monogenic diabetes in family members: A case report

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

ABCC8 haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemia

Persistent Hyperinsulinemic Hypoglycemia in Infancy-A Case Report

Heterogeneous nature of diabetes in a family with a gain-of-function mutation in the ATP-binding cassette subfamily C member 8 (ABCC8) gene

Corrigendum: Genetic association of wool quality characteristics in United States Rambouillet sheep

Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience

Clinical management of diazoxide-unresponsive congenital hyperinsulinism: a single-center experience

THE LACK OF CORRELATION IN TYPE 2 DIABETES MELLITUS BETWEEN NON-CPG METHYLATION AND DIABETES RISK FACTORS, LIPID PROFILE, KIDNEY FUNCTION TEST, HBA1C, AND RANDOM BLOOD SUGAR

Relationship between the efficacy of sulfonylurea therapy and structural variants of the ABCC8 (rs757110) and KCNJ11 (rs5219) genes in patients with type 2 diabetes mellitus with different phenotypes

842-P: Development of Long-Acting GLP-1 Receptor Antagonist for the Treatment of Congenital Hyperinsulinism

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

Erster Krampfanfall im Säuglingsalter

Identification of SNP rs1799854 ABCC8 gene and blood glucose levels in patients with type 2 diabetes mellitus at Moewardi hospital Surakarta Solo

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8

Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience

Case report: Maturity-Onset Diabetes of the Young (MODY12) caused by ABCC8 gene mutations

Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes

Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia

287-OR: An ABCC8 R1420H Loss-of-Function Variant Affects Insulin Secretory Function and Microvascular Disease in American Indians

An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population

Clinical Case Report of Non-Diabetic Hypoglycemia Due to a Combination of Germline Mutations in the MEN1 and ABCC8 Genes

Diabetes Mellitus was Definitively Diagnosed after the Birth of the Second Child in A Case With an ABCC8 Pathogenic Variant

第2子の出産後にABCC8遺伝子病的バリアントによる糖尿病を発症したと考えられる1例

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