المؤلفون: Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah

المصدر: Endocrine Connections, Vol 12, Iss 4, Pp 1-7 (2023)

مصطلحات موضوعية: hyperinsulinism/ hyperammonemia, hi/ha syndrome, glud1, neurodevelopmental disorders, epilepsy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/12/4/EC-22-0008.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/880f7ca7eaf7476fabee9019cd87379d

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: Filip Bedenik, Mateja Banović, Ivo Barić, Tamara Žigman

المصدر: Liječnički vjesnik
Volume 141
Issue suppl.1

مصطلحات موضوعية: Food protein-induced enterocolitis syndrome, Ornithine transcarbamylase (OTC) deficiency, Hyperinsulinism-hyperammonemia (HI/HA) syndrome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______951::f2ade2c9ec9798fc43a1658a20f76d55
https://hrcak.srce.hr/file/328485

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