المؤلفون: Qiao Zeng, Yan-Mei Sang

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Congenital hyperinsulinism (CHI), Glutamate dehydrogenase hyperinsulinism (GDH-HI), Glutamate dehydrogenase 1 (GLUD1) gene, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/374d94f421864136ac2d30ca217010df

المؤلفون: Strajnar A, Tansek MZ, Podkrajsek KT, Battelino T, Groselj U

المصدر: Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 77-81 (2018)

مصطلحات موضوعية: diazoxide, glud1 gene, glutamate dehy-drogenase, hyperinsulinism-hyperammonemia (hi/ha) syndrome, persistent hyperinsulinemic hypoglycemia of infancy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/c1e75916eb074ee488686213944d2c89

المؤلفون: Tadej Battelino, Katarina Trebušak Podkrajšek, Mojca Zerjav Tansek, Urh Groselj, A Strajnar

المصدر: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 77-81 (2018)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, GLUD1 gene, 030209 endocrinology & metabolism, Case Report, 030105 genetics & heredity, Hypoglycemia, QH426-470, medicine.disease_cause, Asymptomatic hyperammonemia, Glutamate dehy-drogenase, 03 medical and health sciences, Lethargy, 0302 clinical medicine, medicine, Diazoxide, Genetics, Hyperinsulinemic hypoglycemia, persistent hyperinsulinemic hypoglycemia of infancy, Genetics (clinical), business.industry, Hyperammonemia, medicine.disease, Hyperinsulinism-hyperammonemia (HI/HA) syndrome, Headaches, medicine.symptom, business, Hyperinsulinism, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d309f59187fc472edd337f3a2e0d12ad
https://pubmed.ncbi.nlm.nih.gov/30425915

المؤلفون: René Santer, Mario Ćuk, Vladimir Sarnavka, Dorotea Ninković, Danijela Petković Ramadža, Anica Bašnec, Ivo Barić, Ksenija Fumić, Vesna Kušec

المصدر: Journal of Pediatric Endocrinology and Metabolism. 29

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Recurrent hypoglycemia, Mutation, Missense, Monozygotic twin, 030209 endocrinology & metabolism, Hypoglycemia, cognitive impairment, epilepsy, GLUD1 gene, glutamate dehydrogenase, hyperammonemia, hypoglycemia, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Glutamate Dehydrogenase, Hyperinsulinism, Internal medicine, medicine, Humans, Missense mutation, Genetics, business.industry, Infant, Autosomal dominant trait, Hyperammonemia, Exons, Twins, Monozygotic, Prognosis, medicine.disease, Pediatrics, Perinatology and Child Health, Congenital hyperinsulinism, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85557cf335c0d86ae302e86992d9283f
https://doi.org/10.1515/jpem-2016-0086