Zobrazeno 1 - 10
of 10
pro vyhledávání: '"LS, Lumbar spine"'
Publikováno v:
Journal of Clinical & Translational Endocrinology
Journal of Clinical & Translational Endocrinology, Vol 27, Iss, Pp 100281-(2022)
Journal of Clinical & Translational Endocrinology, Vol 27, Iss, Pp 100281-(2022)
Highlights • CF bone disease is prevalent in children and adults despite recent advances in care. • DXA is the current gold standard in the evaluation of bone strength. • Limited evidence exists for the use of MRI or HRpQCT in the assessment of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b26146e68fffbe85e5b871272ac8fd2
https://pubmed.ncbi.nlm.nih.gov/34984171
https://pubmed.ncbi.nlm.nih.gov/34984171
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100606-(2020)
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100606-(2020)
Gaucher disease (GD; OMIM 230800 ) is a lysosomal storage disorder caused by a deficiency in acid beta-glucosidase as a result of mutation in the GBA gene. Type 1 GD (GD1) is the most common form and its clinical manifestations include severe hematol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bad142e2badcc8ef79097b4cc1ba28ed
http://europepmc.org/articles/PMC7264072
http://europepmc.org/articles/PMC7264072
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 80-84 (2016)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
To date, the only published reports of bone mineral density (BMD) in MPS IV involve patients with MPS IVA; no reports exist describing BMD for MPS IVB. In this prospective study of BMD in three patients with MPS IVB, BMD was acquired by dual-energy X
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fea8e7cca2f067f21f06df0e79a6a489
Autor:
Peter Grabowski, Jai Prakash, Gaurav Garg, Timothy M. Skerry, Jitender Kumar, Gareth O. Richards, Fiona E. McGuigan, Kristina Åkesson, Maria Herlin
Publikováno v:
Gene: X, Vol 2, Iss, Pp-(2019)
Gene: X
Gene: X
Background and aim The Receptor Activity Modifying Proteins (RAMPs) are a group of accessory proteins, of which there are three in humans, that interact with a number of G-protein coupled receptors (GPCR) and play various roles in regulation of endoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2be1b20c01500fba2b4136521a7f2f
https://pubmed.ncbi.nlm.nih.gov/34530989
https://pubmed.ncbi.nlm.nih.gov/34530989
Autor:
Kitagawa T; Department of Physical Therapy, School of Health Sciences, Shinshu University, Matsumoto, Japan., Hiraya K; Department of Physical Therapy, School of Health Sciences, Shinshu University, Matsumoto, Japan., Denda T; Department of Physical Therapy, School of Health Sciences, Shinshu University, Matsumoto, Japan., Yamamoto S; Department of Rehabilitation, Shinshu University Hospital, Matsumoto, Japan.
Publikováno v:
Bone reports [Bone Rep] 2022 Oct 21; Vol. 17, pp. 101631. Date of Electronic Publication: 2022 Oct 21 (Print Publication: 2022).
Autor:
Bass RM; Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA 19146 USA.; Department of Pediatrics, The University of Pennsylvania, Philadelphia, PA 19146, USA., Zemel BS; Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA 19146 USA.; Department of Pediatrics, The University of Pennsylvania, Philadelphia, PA 19146, USA., Stallings VA; Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA 19146 USA.; Department of Pediatrics, The University of Pennsylvania, Philadelphia, PA 19146, USA., Leonard MB; Department of Pediatrics, Lucile Packard Children's Hospital Stanford, Stanford University School of Medicine, Stanford University, Stanford, CA 94305, USA., Tsao J; Division of Endocrinology, The Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Kelly A; Department of Pediatrics, The University of Pennsylvania, Philadelphia, PA 19146, USA.; Division of Endocrinology, The Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.
Publikováno v:
Journal of clinical & translational endocrinology [J Clin Transl Endocrinol] 2022 Mar 25; Vol. 28, pp. 100297. Date of Electronic Publication: 2022 Mar 25 (Print Publication: 2022).
Autor:
Williams KM; Division of Pediatric Endocrinology, Diabetes, and Metabolism, Columbia University Irving Medical Center, 1150 St Nicholas Avenue, New York, NY, USA., Darukhanavala A; Division of Pediatric Endocrinology, University of Massachusetts Medical Center, 55 Lake Ave North, Worcester, MA, USA., Hicks R; Division of Pediatric Endocrinology, David Geffen School of Medicine, UCLA, 10833 Le Conte Ave, MDCC 22-315, Los Angeles, CA, USA., Kelly A; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, 2716 South Street, Philadelphia, PA, USA.
Publikováno v:
Journal of clinical & translational endocrinology [J Clin Transl Endocrinol] 2021 Dec 06; Vol. 27, pp. 100281. Date of Electronic Publication: 2021 Dec 06 (Print Publication: 2022).
Autor:
Sidhu K; McCaig Institute for Bone and Joint Health, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, Alberta T2N 4Z6, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, 28 Oki Drive NW, Calgary, Alberta T3B 6A8, Canada., Boyd SK; McCaig Institute for Bone and Joint Health, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, Alberta T2N 4Z6, Canada., Khan A; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, 28 Oki Drive NW, Calgary, Alberta T3B 6A8, Canada.; Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, 28 Oki Drive NW, Calgary, Alberta T3B 6A8, Canada.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 May 30; Vol. 24, pp. 100606. Date of Electronic Publication: 2020 May 30 (Print Publication: 2020).
Autor:
Prakash J; Lund University, Dept. of Clinical Sciences Malmö, Clinical and Molecular Osteoporosis Research Unit, Sweden., Herlin M; Lund University, Dept. of Clinical Sciences Malmö, Clinical and Molecular Osteoporosis Research Unit, Sweden.; Dept. of Environmental Research and Monitoring, Swedish Museum of Natural History, Stockholm, Sweden., Kumar J; Amity Institute of Biotechnology, Amity University Uttar Pradesh, Noida, India., Garg G; Genomics Division, LCGC Life sciences LLP, New Delhi, India., Akesson KE; Lund University, Dept. of Clinical Sciences Malmö, Clinical and Molecular Osteoporosis Research Unit, Sweden.; Skåne University Hospital, Dept. of Orthopedics, Malmö, Sweden., Grabowski PS; Human Nutrition Unit, Dept. of Oncology and Metabolism, Sheffield University, UK., Skerry TM; Academic Unit of Bone Biology, Dept. of Oncology and Metabolism, Sheffield University, UK., Richards GO; Academic Unit of Bone Biology, Dept. of Oncology and Metabolism, Sheffield University, UK., McGuigan FEA; Lund University, Dept. of Clinical Sciences Malmö, Clinical and Molecular Osteoporosis Research Unit, Sweden.
Publikováno v:
Gene: X [Gene X] 2019 Feb 14; Vol. 2, pp. 100009. Date of Electronic Publication: 2019 Feb 14 (Print Publication: 2019).
Autor:
Kubaski F; Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Biological Sciences, University of Delaware, 118 Wolf Hall, Newark, DE 19716, USA., Kecskemethy HH; Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA., Harcke HT; Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Radiology and Pediatrics, Jefferson Medical College, Thomas Jefferson University, 901 Walnut St, Philadelphia, PA 19107, USA., Tomatsu S; Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Biological Sciences, University of Delaware, 118 Wolf Hall, Newark, DE 19716, USA.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2016 Aug 08; Vol. 8, pp. 80-84. Date of Electronic Publication: 2016 Aug 08 (Print Publication: 2016).