Zobrazeno 1 - 8
of 8
pro vyhledávání: '"S. Ahmet Uçaktürk"'
Publikováno v:
JCRPE, Vol 12, Iss 2, Pp 206-211 (2020)
Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear. MIRAGE syndrome is a recently recognized congenital disorder characterized by
Externí odkaz:
https://doaj.org/article/c369528b115848da87c28b64a9ab1049
Publikováno v:
JCRPE, Vol 12, Iss 2, Pp 202-205 (2020)
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors. The clinical presentation of pediatric PPGLs is highly variable. In cases with pheochromocytoma (PCC), excess catecholamine may stimulate myocytes and cause structural chang
Externí odkaz:
https://doaj.org/article/6e504cf9b63347e0a612f864090a4b6b
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 12:206-211
Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear. MIRAGE syndrome is a recently recognized congenital disorder characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b75e4a168554da11d4b5c16717f79aba
https://doi.org/10.4274/jcrpe.galenos.2019.2019.0053
https://doi.org/10.4274/jcrpe.galenos.2019.2019.0053
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear. MIRAGE syndrome is a recently recognized congenital disorder characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::23da54b6c540db2e27fab4d2a98f8796
https://pubmed.ncbi.nlm.nih.gov/31208161
https://pubmed.ncbi.nlm.nih.gov/31208161
Publikováno v:
JCRPE, Vol 12, Iss 2, Pp 202-205 (2020)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors. The clinical presentation of pediatric PPGLs is highly variable. In cases with pheochromocytoma (PCC), excess catecholamine may stimulate myocytes and cause structural chang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98396add7bab76d1ce8b12459c83a4f8
https://doi.org/10.4274/jcrpe.galenos.2019.0045
https://doi.org/10.4274/jcrpe.galenos.2019.0045
Autor:
S. Ahmet Uçaktürk, Bilgin Yüksel, Eda Mengen, Selin Elmaogullari, Figen Gunindi, Serdar Ceylaner
Publikováno v:
International Journal of Diabetes in Developing Countries. 37:323-326
Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is an autosomal dominantly inherited disease caused by heterozygous inactivating mutations in the glucokinase gene. It usually presents with mild fasting hyperglycemia. Here, we present an o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aa091c83208e1a0ccf330984bd7b8b6
https://doi.org/10.1007/s13410-016-0539-9
https://doi.org/10.1007/s13410-016-0539-9
Publikováno v:
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP. 28(9)
Hypophosphatasia (HPP) is associated with significant morbidity and mortality in pediatric patients. The disease also imposes a high disease-burden in adult-onset HPP. Asfotase alfa (AA) is the first-in-class, bone-targeted, enzyme- replacement thera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1383de1c34a168eedaaee5e12d27411
https://pubmed.ncbi.nlm.nih.gov/30173697
https://pubmed.ncbi.nlm.nih.gov/30173697
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