Cited by 243Pancreatic function and diabetesDiabetes and associated disordersGenomics and Rare Diseases

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Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

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Kapoor, Ritika R, Flanagan, Sarah E, Arya, Ved Bhushan, Shield, Julian P, Ellard, Sian, Hussain, Khalid·2013·European Journal of Endocrinology

DOI 10.1530/eje-12-0673PMC PMC3599069

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Abstract

Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8,KCNJ11,GLUD1,GCK,HADH,SLC16A1,HNF4A and HNF1A) are known to cause CHI. Aim: To characterise the clinical and molecular aspects of a large cohort of patients with CHI. Methodology: Three hundred patients were recruited and clinical information was collected before genotyping.ABCC8 and KCNJ11 genes were analysed in all patients. Mutations in GLUD1,HADH,GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A). Results: Mutations were identified in 136/300 patients (45.3%). Mutations in ABCC8/KCNJ11 were the commonest genetic cause identified (n=109, 36.3%). Among diazoxide-unresponsive patients (n=105), mutations in ABCC8/KCNJ11 were identified in 92 (87.6%) patients, of whom 63 patients had recessively inherited mutations while four patients had dominantly inherited mutations. A paternal mutation in the ABCC8/KCNJ11 genes was identified in 23 diazoxide-unresponsive patients, of whom six had diffuse disease. Among the diazoxide-responsive patients (n=183), mutations were identified in 41 patients (22.4%). These include mutations in ABCC8/KCNJ11(n=15),HNF4A(n=7),GLUD1(n=16) and HADH(n=3). Conclusions: A genetic diagnosis was made for 45.3% of patients in this large series. Mutations in the ABCC8 gene were the commonest identifiable cause. The vast majority of patients with diazoxide-responsive CHI (77.6%) had no identifiable mutations, suggesting other genetic and/or environmental mechanisms.

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Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
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Background
Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biology
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Background
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism
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BackgroundInfluential
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8
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“4 % of patients who had mutations in the diazoxide responsive group, only 3 patients (1 % of all cases) had HADH mutation [19].”
BackgroundResultInfluentialSelf-citation
A family in which people with a heterozygous ABCC8 gene mutation (p.Lys1385Gln) have progressed from hyperinsulinemic hypoglycemia to hyperglycemia
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“On the other hand, the diffuse form is usually caused by the homozygous or the compound heterozygous mutation and is sometimes caused by the heterozygous mutation.(5) People with the diffuse form due to the heterozygous ABCC8 gene mutation have been reported to occasionally progress to DM later in life,(6,7) but the c…”
Background
An update on congenital hyperinsulinism: advances in diagnosis and management
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BackgroundInfluentialSelf-citation
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia
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Background
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Self-citation
Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11\n
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ResultSelf-citation
Stem Cell Based Models in Congenital Hyperinsulinism – Perspective on Practicalities and Possibilities
Lithovius, V., & Otonkoski, T. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.837450 · Cited by 8
“Discovery of Novel CHI Pathomechanisms Around 50% of new CHI patients do not present a mutation in the genes previously identified as causative for CHI (2).”
Background
Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects
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Background
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia
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Background
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Self-citation
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Self-citation
Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome
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BackgroundInfluential
Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
Zhang, W., & Sang, Y. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02088-6 · Cited by 7
Congenital Hyperinsulinism
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Report of Prolonged Neonatal Hypoglycemia in Three Infants of Mothers With Variants in HNF1A
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“For HI, large cohort studies have shown that routine genetic testing identi ﬁ es a pathogenic variant in a known disease gene in 45 – 79% of cases [13, 14].”
BackgroundSelf-citation
Physiological and phased approach to newborns at-risk of hyperinsulinemic hypoglycemia: A neonatal perspective
Chandran, S., Rajadurai, V., Hussain, K., & Yap, F. K. P. (2019) · Journal of Clinical Neonatology · doi:10.4103/jcn.jcn_37_19 · Cited by 7
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BackgroundSelf-citation
Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy
Taylor‐Miller, T., Houghton, J., Munyard, P., Kumar, Y., Puvirajasinghe, C., & Giri, D. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0457 · Cited by 7
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“mutations in the genes encoding the ATP-sensitive potassium channel (KATP-HI), accounting for up to 57% of cases followed at our Center located in Philadelphia, Pennsylvania (3), which is consistent with the experience of other HI Centers (4, 5).”
BackgroundInfluential
Congenital hyperinsulinism in the Ukraine: a 10-year national study
Globa, E., Christesen, H. T., Mortensen, M. B., Houghton, J., Nielsen, A. L., Detlefsen, S., & Flanagan, S. E. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1497579 · Cited by 6
Self-citation
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels
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“Finally, there are reports of clinical improvement in individuals with heterozygous ABCC8 mutations [20] or those with severe disease [21] with time.”
Background
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia
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Self-citation
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism
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Self-citation
Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
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“Diazoxide is usually ineffective in treating patients with CHI due to biallelic recessive mutations in the genes encoding KATP channel or presence of monoallelic focal form of disease [13,14].”
Background
Wrodzony hiperinsulinizm — próba optymalizacji diagnostyki i leczenia u polskich pacjentów
Buraczewska, M., Szymanska, E., Brandt, A., Jarosz-Chobot, P. A., Sykut‐Cegielska, J., Barg, E., Borowiec, M., Mlynarski, W. M., & Myśliwiec, M. (2015) · Endokrynologia Polska · doi:10.5603/ep.2015.0041 · Cited by 5
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Self-citation
Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism
Abalı, Z. Y., Baş, F., Houghton, J., Abalı, S., Özturan, E. K., Güleç, Ç., Aslanger, A. D., Kandemir, T., Durmaz, D., Yücesoy, M., et al. (2025) · Endocrine · doi:10.1007/s12020-025-04244-5 · Cited by 4
“The ﬁ rst-line treatment for CHI is diazoxide, a KATP channel agonist; however, its ef ﬁ cacy is limited in patients with variants in the genes encoding KATP channels ( ABCC8 and KCNJ11 ) [1, 6].”
Self-citation
Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation
Poon, S. W.-Y., Chung, B. H., Wong, M. S., & Anita Man-ching, T. S. A. N. (2023) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2023.2022-12-10 · Cited by 5
“These mutations also account for almost 90% of diazoxide-unresponsive hyperinsulinism cases, followed by activating mutations of glucokinase (GCK) gene (14,15).”
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Raičević, M., Milenković, T., Hussain, K., Djordjevic, M., Martić, J., Todorovic, S., Mitrović, K., Sarajlija, A., & Vuković, R. (2021) · European Journal of Pediatrics · doi:10.1007/s00431-021-04051-w · Cited by 4
Self-citation
Continuous subcutaneous infusion of somatostatin analogues in the treatment of congenital hyperinsulinism
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Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management
Chen, C., & Sang, Y. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1102307 · Cited by 4
“Nevertheless, almost 40% of children with CHI still have unidentified genes to date (3).”
Background
Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion
Wee, E., Herriges, J. C., Dileepan, K., Tsai, S. L., Alaimo, J. T., & Paprocki, E. L. (2023) · Case Reports in Endocrinology · doi:10.1155/2023/8658540 · Cited by 4
“Given the presentation of congenital hyperinsulinism, targeted next generation sequencing (NGS) with deletion/duplication analysis for 24 genes (ABCC8, AKT2, CACNA1D, CREBBP, EP300, FOXA2, GCK, GLUD1, GPC3, HADH, HNF1A, HNF4A, INSR, KCNJ11, KDM6A, KMT2D, MAFA, MPI, NSD1, PGM1, PMM2, SLC16A1, TRMT10A, and UCP2), which…”
Method
Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants
Huerta‐Saenz, L., Saunders, C., & Yan, Y. (2018) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-018-0060-7 · Cited by 4
“HNF4A variants are typically rare and the incidence varies per population but have been described as the third most common cause of diazoxide-responsive CHI in a large cohort of 300 patients with CHI from United Kingdom [14, 15].”
Background
Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging
Hashimoto, Y., Sakakibara, A., Kawakita, R., Hosokawa, Y., Fujimaru, R., Nakamura, T., Fukushima, H., Igarashi, A., Masue, M., Nishibori, H., et al. (2015) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-015-0016-0 · Cited by 4
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“Kapoor et al. demonstrated that among a CHI population who were referred to a children hospital in England, c.331 G > A variant in the ABCC8 gene was one of the most common variants [2].”
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“Additionally, some cases of KATP-associated CHI that develop diabetes despite absence of pancreatic surgery have been reported ( 38, 46, 47 ), indicating the need for long-term follow-up and transition to adult care, regardless of whether continuing treatment for CHI is warranted.”
Background
Does the use of diazoxide for hyperinsulinaemic hypoglycaemia increase the risk of necrotising enterocolitis in neonates?
Solís‐García, G., Yeung, T., & Jasani, B. (2023) · Archives of Disease in Childhood · doi:10.1136/archdischild-2023-325726 · Cited by 3
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“These patients are mostly responsive to diazoxide [16,27].”
BackgroundInfluentialSelf-citation
Clinical characteristics and phenotype-genotype review of 25 Omani children with congenital hyperinsulinism in infancy
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Advances in Pharmacotherapy for Congenital Hyperinsulinism
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“Histologically, CHI is classified into focal, diffuse, or atypical forms [11].”
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From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review
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“Patients with mutations in GLUD1 , HADH , SLC16A1 , HNF1A and HNF4A genes are more likely to be diazoxide-responsive as compared to the other genetic variants (Shaikh et al., 2023; Kapoor et al., 2013; Demirbilek and Hussain, 2017; Flanagan et al., 2010).”
Influential
Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease
Contractor, J. B., Radha, V., Shah, K., Singh, P., Tadepalli, S., Nimbalkar, S. M., Mohan, V., & Shah, P. (2025) · Medical Sciences · doi:10.3390/medsci13020037 · Cited by 4
“However, despite significant advances which have expanded our understanding of the pathophysiology of this disorder, the cause of CHI remains unknown in up to 50% of, patients suggesting the existence of additional genetic loci that have yet to be discovered [54].”
Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network
Pasquini, T. L. S., Banerjee, I., Christesen, H. T., Conwell, L. S., Dastamani, A., León, D. D. D., Flanagan, S. E., Gillis, D. J., Kalish, J. M., Lord, K., et al. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1549310 · Cited by 2
“Currently, only about half of those who have had targeted genetic testing for HI have received a genetic diagnosis (41, 42).”
Self-citation
A Newborn with Congenital Hyperinsulinism
Du, Y., Ju, R., Xi, Y., & Gou, P. (2019) · Fetal and Pediatric Pathology · doi:10.1080/15513815.2019.1603255 · Cited by 2
“4412delT variant of the ABCC8 gene is associated with CHI [11].”
Background
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation
Galcheva, S., Iotova, V., Ellard, S., Flanagan, S. E., Halvadzhiyan, I., Petrova, C., & Hussain, K. (2017) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2016-0345 · Cited by 2
“Diazoxide is a KATP channel agonist and patients with biallelic mutations in the KATP channel genes usually show a poor response to such treatment [2, 3].”
BackgroundSelf-citation
Hiperinsulinismo congénito en Gran Canaria
Medina, Y. N., García, Á. D., González, S. Q., Garcia-Cruz, L. M., & Santana, A. (2020) · Anales de Pediatría · doi:10.1016/j.anpedi.2020.08.012 · Cited by 2
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism
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Hyperinsulinism–hyperammonemia syndrome in two Peruvian children with refractory epilepsy
Torre, M. Á. D. L. S.-L., Villar, C. D. Á., Lama, L. R. L.-D., Almache, O. N., Chávez-Tejada, E. M., Robles, O. A. E., Ibárcena, P. M. P., Calagua-Quispe, M. R., Azabache-Tafur, P. M., & Tucto-Manchego, R. M. (2022) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2022-0490 · Cited by 2
Congenital Hyperinsulinism
Banerjee, I., Salomon‐Estebanez, M., Cosgrove, K. E., & Dunne, M. J. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64974-7 · Cited by 2
Modelling of Beta Cell Pathophysiology Using Stem Cell-Derived Islets
Barsby, T., Montaser, H., Lithovius, V., Ibrahim, H., Vähäkangas, E., Muralidharan, S., Chandra, V., Saarimäki‐Vire, J., & Otonkoski, T. (2023) · Springer eBooks · doi:10.1007/978-3-031-41943-0_24 · Cited by 1
Non‐surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients
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The p.( Gly111Arg ) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community
Jain, V., Radha, V., Mohan, V., Wakeling, M. N., Bennett, J. J., & Flanagan, S. E. (2024) · Clinical Genetics · doi:10.1111/cge.14657 · Cited by 1
“In 2013, the p.(Gly111Arg) ABCC8 variant was flagged as a possible founder variant in the Indian population [4].”
Self-citation
Cells Co-Producing Insulin and Glucagon in Congenital Hyperinsulinism
Krivova, Y. S., Proshchina, A. E., Otlyga, D., Gubaeva, D. N., Melikyan, M. V., & Saveliev, S. V. (2025) · Life · doi:10.3390/life16010018 · Cited by 1
“To date, about 10 monogenic forms and several syndromic forms of CHI are known [1,5], although the molecular causes remain unknown in 21–54% of cases [6,7].”
Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel ABCC8 Variant
Qadir, A., Shah, I. A., Mir, M. R., Sofi, J. A., Radha, V., Mohan, V., Ganie, S. A., & Ganie, M. A. (2026) · Clinical Endocrinology · doi:10.1111/cen.70091 · Cited by 1
Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism
Männistö, J. M. E., Houghton, J., Bennett, J. J., Keskinen, P., Tuomilehto, J., Ruuskanen, H., Viikari, L. A., Jokiniitty, A., Lähde, J., Raivo, J., et al. (2026) · Journal of the Endocrine Society · doi:10.1210/jendso/bvag047 · Cited by 1
“In 13 individuals, no genetic cause was identified, consistent with the diagnostic yield reported in other studies [7, 13-16].”
Self-citation
Utility of continuous glucose monitoring during pancreatic surgery in patients with congenital hyperinsulinism
Worthington, S., Worth, C., Auckburally, S. H., Bowler, M., Beauve, B., O’Shea, E., Craigie, R., Salomon‐Estebanez, M., & Banerjee, I. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1788026 · Cited by 1
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Self-citation
A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation
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New Tools for Congenital Hyperinsulinism
Lozzo, P. D., Risso, F. M., Schleef, J., Sirchia, F., Sagredini, R., Bussani, R., D’Adamo, P., Barbi, E., & Tornese, G. (2021) · Clinical Pediatrics · doi:10.1177/00099228211013648 · Cited by 1
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Background
Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling
Arnoux, J., & de Lonlay, P. (2022) · Springer eBooks · doi:10.1007/978-3-662-63123-2_6 · Cited by 1
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BackgroundSelf-citation
Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up
Hui, P., Chen, C., & Sang, Y. (2023) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2023-0445 · Cited by 1
Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion
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Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra
Şimşek, E., Binay, Ç., Flanagan, S. E., Ellard, S., Hussain, K., & Kabukçuoğlu, S. (2013) · The Turkish Journal of Pediatrics · doi:10.24953/turkjped.2013.1560 · Cited by 1
Self-citation
Clinical and epidemiological profile of congenital hyperinsulinism in Brazil
Liberatore, R. D. R., Marques, A. L., dos Santos, L. S., & Luciano, T. M. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1547855 · Cited by 1
Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes
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Self-citation
18 F luoro‐dihydroxy phenylalanine positron emission tomography/computed tomography scanning for congenital hyperinsulinism of infancy
Conwell, L. S., Greer, R. M., Neville, K. A., Amato, L. A., Campbell, L., & Fiumara, F. (2015) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.12827 · Cited by 1
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“The diagnostic criteria included detectable concentration of insulin and/or C peptide in serum when blood glucose is lower than 3mmol/L, with inappropriately low concentration of free fatty acids and ketone bodies [6,12].”
Background
Papel de la PET/TC con 18F-DOPA en el diagnóstico de la forma congénita focal del hiperinsulinismo en niños
Chroustová, D., Trnka, J., Pudlač, A., Obermannová, B., & Lambert, L. (2020) · Revista Española de Medicina Nuclear e Imagen Molecular · doi:10.1016/j.remn.2020.02.005 · Cited by 1
Update of variants identified in the pancreatic β-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
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Self-citation
Focal congenital hyperinsulinism resulting from biallelic loss of function of KCNJ11 gene
Garegrat, R., Patnaik, S., Suryawanshi, P. B., & Datar, C. A. (2021) · BMJ Case Reports · doi:10.1136/bcr-2020-240218 · Cited by 1
When is it best to discontinue diazoxide in children with persistent hyperinsulinaemic hypoglycaemia and negative genetics for KATP channel gene variants?
Güemes, M., Kostopoulou, E., AlYahyaei, M., Gilbert, C., & Shah, P. (2021) · Clinical Endocrinology · doi:10.1111/cen.14581 · Cited by 1

Authors: Kapoor, R. R., Flanagan, S. E., Arya, V. B., Shield, J. P., Ellard, S., & Hussain, K.
Affiliations: Great Ormond Street Hospital (GB)
University of Exeter (GB)
Corresponding author: Hussain, Khalid
ORCID: Kapoor, Ritika R
Flanagan, Sarah E
Arya, Ved Bhushan
Ellard, Sian
Hussain, Khalid
Venue: European Journal of Endocrinology
Publisher: Oxford University Press (OUP)
Published: 2013-04
Volume: 168
Issue: 4
Pages: 557-564
ISSN: 0804-4643 (ISSN-L)
1479-683X
DOI: 10.1530/eje-12-0673
PMC: PMC3599069
OpenAlex: W2111189973
Semantic Scholar: 1a21aa2a4c44a96603182b698464b7e013b7884f
Cited by: 243
References: 81
Citations by year: 2026: 14 · 2025: 12 · 2024: 17 · 2023: 19 · 2022: 25 · 2021: 23 · 2020: 21 · 2019: 20 · 2018: 13 · 2017: 12 · 2016: 12 · 2015: 27 · 2014: 22 · 2013: 6
FWCI: 22.03
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc
www.bioscientifica.com/journals/reuselicenceeje/ (unspecified)
Locations: European Journal of Endocrinology (publishedVersion, cc-by-nc)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Bristol Research (University of Bristol) (submittedVersion)
Funders: Wellcome Trust (081188/A/06/Z)
Society for Endocrinology
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: congenital hyperinsulinism, ABCC8, KCNJ11, HNF4α, GLUD1, hydroxyacyl-CoA dehydrogenase, glucokinase, MCT1, genetic diagnosis, recessive inheritance, paternal mutations, diffuse hyperinsulinism, hyperammonemia, consanguinity, genotype-phenotype correlation
MeSH terms: Kcnj11 Channel, Diazoxide, Female, Humans, Infant, Infant, Newborn, Male, Mutation, Receptors, Drug, Cohort Studies, ATP-Binding Cassette Transporters, Potassium Channels, Inwardly Rectifying, Congenital Hyperinsulinism, Sulfonylurea Receptors

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Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

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