Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rıdvan Murat Öktem"'
Autor:
Ayşenur Engin Erdal, Ahmet Cevdet Ceylan, Kıvılcım Gücüyener, Rıdvan Murat Öktem, Oya Kıreker Köylü, Çiğdem Seher Kasapkara
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1eabc1ece0a0a317b406a867acb8c8d7
https://doi.org/10.1515/jpem-2022-0480
https://doi.org/10.1515/jpem-2022-0480
Autor:
Fatih Süheyl Ezgü, Gürsel Biberoğlu, Aslı İnci, Burcu Topcu Yüce, İlyas Okur, Filiz Başak Cengiz Ergin, Bahattin Çiftçi, Ercan Demir, Necla Buyan, Leyla Tümer, Rıdvan Murat Öktem
Publikováno v:
Journal of bone and mineral metabolismWeb resources. 39(4)
Hypophosphatasia (HPP) is caused by mutations in the ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (ALP). Clinical manifestations range from extreme life-threatening lethal forms to no signs or symptoms at all. Consecutiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a99791d7a84215cb10ed35d0e27bf3c
https://pubmed.ncbi.nlm.nih.gov/33404770
https://pubmed.ncbi.nlm.nih.gov/33404770