Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Dirk, Schnabel"'
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Children with obesity have low 25 hydroxy-vitamin D (25-OH-D3) levels compared to lean children. Recommendations on when to start vitamin D supplementation differ largely between countries. Longitudinal data on 25-OH-D3 levels to
Externí odkaz:
https://doaj.org/article/de524ee036134585aa6442a8ef6352f1
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:
Dirk Schnabel, Ilonka Kreitschmann-Andermahr, Christian J. Strasburger, David Pittrow, Christine Pausch, Joachim Woelfle, for the INSIGHTS-GHT Study Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Somatropin treatment is indicated in a variety of disorders including growth hormone (GH) deficiency, Prader–Willi and Turner syndrome, chronic renal insufficiency and others. To date, almost all studies have been limited to sin
Externí odkaz:
https://doaj.org/article/8a4fd5b560a4430588b9422f7c8ff492
Publikováno v:
BMJ Paediatrics Open, Vol 7, Iss 1 (2023)
An unusual high number of girls were referred to our paediatric endocrine clinic with suspected precocious puberty (PP) since the beginning of the COVID-19 pandemic. We analysed our data and initiated a survey among German paediatric endocrinologists
Externí odkaz:
https://doaj.org/article/2e2e8b5220ab47bca8b8744a73780503
Autor:
Ravi Savarirayan, Daniel G. Hoernschemeyer, Merete Ljungberg, Yuri A. Zarate, Carlos A. Bacino, Michael B. Bober, Janet M. Legare, Wolfgang Högler, Teresa Quattrin, M. Jennifer Abuzzahab, Paul L. Hofman, Klane K. White, Nina S. Ma, Dirk Schnabel, Sérgio B. Sousa, Meng Mao, Alden Smith, Mukta Chakraborty, Adebola Giwa, Bent Winding, Birgitte Volck, Aimee D. Shu, Ciara McDonnell
Publikováno v:
EClinicalMedicine, Vol 65, Iss , Pp 102258- (2023)
Summary: Background: TransCon CNP (navepegritide) is an investigational prodrug of C-type natriuretic peptide (CNP) designed to allow for continuous CNP exposure with once-weekly dosing. This 52-week phase 2 (ACcomplisH) trial assessed the safety and
Externí odkaz:
https://doaj.org/article/07498b64dfd0403e9988b282f640b406
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, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala, Zulf Mughal
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incid
Externí odkaz:
https://doaj.org/article/d1eaabf96b4c4fabb33c9762c45a5fee
Autor:
Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala, Outi Mäkitie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-25 (2019)
Abstract Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including i
Externí odkaz:
https://doaj.org/article/acfb5f3933a643098455d783b398c950