Zobrazeno 1 - 10
of 119
pro vyhledávání: '"neonatal hyperparathyroidism"'
Autor:
Dhalapathy Sadacharan, Smitha S Rao, Shriraam Mahadevan, G Shanmugasundar, S Murthy, Shruti Chandrashekaran, Vijay Bhaskar Reddy, Bharath Ramji
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 28, Iss 1, Pp 22-28 (2024)
Background: Primary hyperparathyroidism (PHPT) is a common endocrine condition but rare in the pediatric and adolescent populations. The presentations can be unique, accounting for significant morbidity in the case of untimely detection. Aim: To stud
Externí odkaz:
https://doaj.org/article/76f56ae7af6445c0a45dc8bd127cfec7
Autor:
Nina V. Fedorova, Natalia V. Zhurkova, Nato D. Vashakmadze, Marina A. Babaykina, Grigory V. Revunenkov, Kirill V. Savostyanov, Olga B. Gordeeva, Leyla S. Namazova-Baranova
Publikováno v:
Педиатрическая фармакология, Vol 17, Iss 5, Pp 459-466 (2020)
Background. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It is very rare disease; the literature describes only few cases with confirmed diagnosis of mucolipidosis. Cardiovascular changes in children with such
Externí odkaz:
https://doaj.org/article/0084474a21794998a5bad3ea320fbcff
Autor:
Jakob Höppner, Sabrina Lais, Claudia Roll, Andreas Wegener-Panzer, Dagmar Wieczorek, Wolfgang Högler, Corinna Grasemann
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Familial hypocalciuric hypercalcemia (FHH, [OMIM #145980]) is recognized as a benign endocrine condition affecting PTH and calcium levels due to heterozygous inactivating mutations in the calcium sensing receptor (CaSR). The condition is often un- or
Externí odkaz:
https://doaj.org/article/055e78e8824547da8b284b1e004eb5aa
Akademický článek
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Publikováno v:
Journal of the Endocrine Society
Maternal–fetal transport of calcium (Ca2+) is important for bone mineralization in fetal development. Insufficient Ca2+ transport causes transient neonatal hyperparathyroidism (TNHP). Transient receptor potential cation channel, subfamily V, member
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b109c87da33ed6de900aa6b70cc55044
http://europepmc.org/articles/PMC6389352
http://europepmc.org/articles/PMC6389352
Publikováno v:
International Journal of Surgery Case Reports
Highlights • Neonatal severe primary hyperparathyroidism is an exceedingly rare condition that has high mortality and morbidity if left untreated. • Medical therapy must be initiated as soon as the condition is diagnosed, and early surgery must b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc6ffae03ef166f6e0a5e9b398697c19
http://europepmc.org/articles/PMC6957862
http://europepmc.org/articles/PMC6957862
Autor:
Höppner, Jakob, Lais, Sabrina, Roll, Claudia (Dr. med.), Wegener-Panzer, Andreas, Wieczorek, Dagmar (Prof. Dr. med.), Högler, Wolfgang (Prof. Dr. med.), Grasemann, Corinna (Dr. med.)
Publikováno v:
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinology, Vol 12 (2021)
Familial hypocalciuric hypercalcemia (FHH, [OMIM #145980]) is recognized as a benign endocrine condition affecting PTH and calcium levels due to heterozygous inactivating mutations in the calcium sensing receptor (\(\it CaSR\)). The condition is ofte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_dedup___::c0177a2d2da600606b4a081a9ed7c362
http://europepmc.org/articles/PMC8518617
http://europepmc.org/articles/PMC8518617
Publikováno v:
Cureus
Transit neonatal hyperparathyroidism (TNHP) is a very rare recessive mutation in the calcium channel transporter. TNHP is defined as an impairment of calcium transportation from the mother to the fetus prenatally and mainly in the third trimester. TN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a502af233e86fa96647056356f5d2c5
https://doi.org/10.7759/cureus.7000
https://doi.org/10.7759/cureus.7000
Publikováno v:
Leunbach, T L, Hansen, A T, Madsen, M, Cipliene, R, Christensen, P S & Schou, A J 2021, ' A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug ', Bone Reports, vol. 14, 100761 . https://doi.org/10.1016/j.bonr.2021.100761
Bone Reports, Vol 14, Iss, Pp 100761-(2021)
Bone Reports
Bone Reports, Vol 14, Iss, Pp 100761-(2021)
Bone Reports
We report a boy with hypercalcemia due to neonatal severe hyperparathyroidism (NSHPT) caused by a compound heterozygous mutation in the calcium sensing receptor (CaSR) managed successfully on a type II calcimimetic drug. The hypercalcemia was tempora
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::896fbdd5d74ac12e2784a89e2483b257
https://vbn.aau.dk/da/publications/638a2ca5-5c7d-400d-975a-ebc530996dc9
https://vbn.aau.dk/da/publications/638a2ca5-5c7d-400d-975a-ebc530996dc9
Autor:
Areej A. Ibrahim, Marlies Kempers, Mohamed A. Abdullah, Dorien Lugtenberg, Salwa A. Musa, Asmahan Tajelsir Abdallah, Samar Sabir Hassan
Publikováno v:
Pan African Medical Journal, 40
The Pan African Medical Journal
Pan African Medical Journal; Vol. 40 No. 1 (2021)
The Pan African Medical Journal
Pan African Medical Journal; Vol. 40 No. 1 (2021)
Contains fulltext : 243931.pdf (Publisher’s version ) (Open Access) Neonatal hyperparathyroidism is a rare disease caused by a homozygous inactivating mutation in the calcium sensing receptor gene. It presents early in life with life threatening ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54f92bafdbb5e5f60d7859b3ac95f02a
https://hdl.handle.net/2066/243931
https://hdl.handle.net/2066/243931