Zobrazeno 1 - 10
of 102
pro vyhledávání: '"M Zulf, Mughal"'
Autor:
Annemieke M. Boot, Gema Ariceta, Signe Sparre Beck-Nielsen, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, M. Zulf Mughal, Outi Mӓkitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M. Carola Zillikens, Jonathan Liu, Alina Tudor, Francesco Emma
Publikováno v:
Therapeutic Advances in Chronic Disease, Vol 15 (2024)
Background: X-linked hypophosphatemia (XLH) is a rare, progressive disorder characterized by excess fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D synthesis. Burosumab is a recombinant human monoclo
Externí odkaz:
https://doaj.org/article/ad24bc6611d64fadbf932d2c17d3938c
Autor:
Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, M. Zulf Mughal, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, Jonathan Liu, Angela Williams, Sue Wood, M. Carola Zillikens
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Background X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which
Externí odkaz:
https://doaj.org/article/388123ab12ae45a9a9fad4c55b77739a
Autor:
M. Zulf Mughal, Giampiero I. Baroncelli, Carmen de Lucas-Collantes, Agnès Linglart, Andrea Magnolato, Adalbert Raimann, Fernando Santos, Dirk Schnabel, Nick Shaw, Ola Nilsson
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2023)
Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of European physicians experienced with burosumab treatment
Externí odkaz:
https://doaj.org/article/cf31ca10d592471fad91e3725e089c67
Autor:
Maria Luisa Brandi, Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M. Carola Zillikens, Jonathan Liu, Alina Tudor, M. Zulf Mughal
Publikováno v:
Therapeutic Advances in Chronic Disease, Vol 13 (2022)
Background: X-linked hypophosphataemia (XLH) is a rare, inherited, phosphate-wasting disorder that elevates fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D (1,25(OH) 2 D) synthesis. Disease character
Externí odkaz:
https://doaj.org/article/d28bfcdf548745f180f84f7092e7c674
Autor:
Raja Padidela, Robert Yates, Dan Benscoter, Gary McPhail, Elaine Chan, Jaya Nichani, M. Zulf Mughal, Charles Myer, Omendra Narayan, Claire Nissenbaum, Stuart Wilkinson, Shanggen Zhou, Howard M. Saal
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance. In some infants with HPP, severe trach
Externí odkaz:
https://doaj.org/article/5cf80021bb684fdfafeb46428d8e18f5
Autor:
Ibrahim Al Alwan, Nouf Al Issa, Yousef Al Anazi, Khalid Al Noaim, M. Zulf Mughal, Amir Babiker
Publikováno v:
Case Reports in Endocrinology, Vol 2022 (2022)
Vitamin D intoxication (VDI) usually develops due to inappropriate use of vitamin D in high doses by the families of infants with complaints suggestive of vitamin D deficiency such as delayed teething, knock knees, or delayed walking. We present here
Externí odkaz:
https://doaj.org/article/f5f84016ba2d406aa5b6686670bf6e7d
Autor:
Manal Khadora, M. Zulf Mughal
Publikováno v:
Bone Reports, Vol 15, Iss , Pp 101138- (2021)
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare disorder caused by somatic mosaicism for the gain of function RAS mutations . Affected patients have segmental epidermal nevi, dysplastic cortical bony lesions, and fibroblast growth facto
Externí odkaz:
https://doaj.org/article/97c68b4fdec74e7aa031bee17dddcd56
Autor:
Neha Agarwal, Umber Agarwal, Zarko Alfirevic, Joyce Lim, Musa Kaleem, Caren Landes, M. Zulf Mughal, R. Ramakrishnan
Publikováno v:
Bone Reports, Vol 12, Iss , Pp 100280- (2020)
Background: Generalised arterial calcification of infancy (GACI) is a rare disorder characterised by the deposition of hydroxyapatite crystals within the vessel walls. It is associated with a high mortality rate. Bisphosphonates have been used with s
Externí odkaz:
https://doaj.org/article/468211443a98465b90e9fb5bdf6fde7a
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems,
Externí odkaz:
https://doaj.org/article/896b1344bd8f4dfa8894c75ee659dcfb
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:549-556
Objectives Neonatal severe hyperparathyroidism (NSHPT) due to pathogenic mutations in the calcium-sensing receptor (CASR) is a serious medical condition that can lead to symptomatic hypercalcaemia and has detrimental effects on a child’s growth and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e336d73d3a99f91261ba8cbfc917b2b5
https://doi.org/10.1515/jpem-2021-0632
https://doi.org/10.1515/jpem-2021-0632