Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Manar S A Al-Faham"'
Autor:
Sezer Acar, Huda A BinEssa, Korcan Demir, Roua A Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F Al-Enezi, Seçil Özışık, Manar S A Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E Tamimi, Brian F Meyer, Ece Böber, Yufei Shi
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0193388 (2018)
Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed.Clinical features and mutation spectrum were
Externí odkaz:
https://doaj.org/article/10b254c616884e3f832371affc2506e0
Autor:
Basma Alomrani, Huda A BinEssa, Yufei Shi, Brian F. Meyer, Manar S A Al-Faham, Minjing Zou, Anwar F Al-Enezi, Roua A. Al-Rijjal
Publikováno v:
Bone. 125:186-193
Context X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the PHEX gene and is the most common form of hereditary rickets. The splice-site mutations account for 17% of all reported PHEX mutations. The functional consequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::258283444ad1c5dab0d81484b9472f90
https://doi.org/10.1016/j.bone.2019.05.017
https://doi.org/10.1016/j.bone.2019.05.017
Autor:
Afaf Alsagheir, Walaa E Kattan, Mohammad A. Alqahtani, Brian F. Meyer, Essa Y. Baitei, Minjing Zou, Ali S. Alzahrani, Anwar F Al-Enezi, Ali Al Qarni, Roua A. Al-Rijjal, Ali Al-Odaib, Omer Babiker, Yufei Shi, Manar S A Al-Faham, Huda A BinEssa
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 103:1889-1898
Context Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening program in 1988, more than 300 cases have been identified. The underlying gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc75df5169a26b1f94ee9e1428362ce9
https://doi.org/10.1210/jc.2017-02202
https://doi.org/10.1210/jc.2017-02202
Autor:
Bumin Dündar, Ayhan Abaci, Ece Böber, Secil Ozisik, Gönül Çatlı, Yufei Shi, Maysoon Alsagob, Minjing Zou, Huda A BinEssa, Brian F. Meyer, Roua A. Al-Rijjal, Sezer Acar, Salih Kavukçu, Korcan Demir, Walaa E Kattan, Anwar F Al-Enezi, Ahmet Anık, Hamdi E Tamimi, Manar S A Al-Faham
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0193388 (2018)
PLoS ONE
PLoS ONE
Background Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed. Methodology Clinical features an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c13f29a24625f6662d5568007aa4372
https://avesis.deu.edu.tr/publication/details/f522beff-1661-4cf0-8a4d-9a07001aa2eb/oai
https://avesis.deu.edu.tr/publication/details/f522beff-1661-4cf0-8a4d-9a07001aa2eb/oai
