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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1951 1
1952 4
1955 2
1956 1
1957 1
1959 1
1960 1
1963 1
1966 2
1967 1
1968 4
1969 3
1970 2
1971 2
1972 5
1973 5
1974 4
1976 4
1977 5
1979 3
1980 2
1981 6
1982 1
1983 3
1984 6
1985 5
1986 6
1987 3
1988 5
1989 4
1990 3
1991 7
1992 3
1993 6
1994 4
1995 9
1996 10
1997 15
1998 11
1999 9
2000 8
2001 9
2002 13
2003 9
2004 12
2005 17
2006 23
2007 18
2008 17
2009 17
2010 16
2011 23
2012 28
2013 28
2014 29
2015 38
2016 47
2017 35
2018 37
2019 20
2020 32
2021 30
2022 34
2023 31
2024 16

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682 results

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Page 1
Osteogenesis imperfecta: advancements in genetics and treatment.
Rossi V, Lee B, Marom R. Rossi V, et al. Curr Opin Pediatr. 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. Curr Opin Pediatr. 2019. PMID: 31693577 Free PMC article. Review.
Thus, the goals of treatment in osteogenesis imperfecta extend beyond decreasing the risk of fracture, to include the maximization of growth and mobility, and the management of extraskeletal complications. The standard of care in pediatric patients is bisphosphonates th …
Thus, the goals of treatment in osteogenesis imperfecta extend beyond decreasing the risk of fracture, to include the maximization of growth …
Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I. Leiva-Gea A, et al. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. An Pediatr (Engl Ed). 2022. PMID: 36347803 Free article. Review.
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.
Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, Arundel P, Shaw N, Pos VD, Underhil A, Portero D, Heral L, Heegaard AM, Masi L, Monsell F, Stanton R, Dijkstra PDS, Brandi ML, Chapurlat R, Hamdy NAT, Collins MT. Javaid MK, et al. Orphanet J Rare Dis. 2019 Jun 13;14(1):139. doi: 10.1186/s13023-019-1102-9. Orphanet J Rare Dis. 2019. PMID: 31196103 Free PMC article. Review.
Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. ...This has led to the formulation of a set of statements to inform healthcare professionals, patients, their families, …
Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutation …
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S. Sawamoto K, et al. Int J Mol Sci. 2020 Feb 23;21(4):1517. doi: 10.3390/ijms21041517. Int J Mol Sci. 2020. PMID: 32102177 Free PMC article. Review.
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. ...We also illustrate developing future therapies focused on the improvem …
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the defici …
Osteogenesis imperfecta: diagnosis and treatment.
Palomo T, Vilaça T, Lazaretti-Castro M. Palomo T, et al. Curr Opin Endocrinol Diabetes Obes. 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367. Curr Opin Endocrinol Diabetes Obes. 2017. PMID: 28863000 Review.
However, bisphosphonates are less effective for preventing long-bone fractures. At the moment, new therapies are under investigation. SUMMARY: Despite advances in the diagnosis and treatment of osteogenesis imperfecta, more research is needed. ...
However, bisphosphonates are less effective for preventing long-bone fractures. At the moment, new therapies are under investigation. …
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO. Savarirayan R, et al. Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26. Nat Rev Endocrinol. 2022. PMID: 34837063 Free article. Review.
The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. ...The pr …
The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exi …
Evaluation and treatment of musculoskeletal chest pain.
Ayloo A, Cvengros T, Marella S. Ayloo A, et al. Prim Care. 2013 Dec;40(4):863-87, viii. doi: 10.1016/j.pop.2013.08.007. Prim Care. 2013. PMID: 24209723 Review.
Many of these conditions can be diagnosed by the primary care clinician in the office by history and physical examination. Treatment is also discussed, including description of manual therapy and exercises as needed for some of the conditions....
Many of these conditions can be diagnosed by the primary care clinician in the office by history and physical examination. Treatment …
Health Supervision for People With Achondroplasia.
Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS. Hoover-Fong J, et al. Pediatrics. 2020 Jun;145(6):e20201010. doi: 10.1542/peds.2020-1010. Pediatrics. 2020. PMID: 32457214 Review.
Although many of the previously published recommendations remain appropriate for contemporary medical care, this document highlights interval advancements in the clinical methods available to monitor for complications associated with achondroplasia. This document is intend …
Although many of the previously published recommendations remain appropriate for contemporary medical care, this document highlights …
The Clinical Spectrum of McCune-Albright Syndrome and Its Management.
Spencer T, Pan KS, Collins MT, Boyce AM. Spencer T, et al. Horm Res Paediatr. 2019;92(6):347-356. doi: 10.1159/000504802. Epub 2019 Dec 19. Horm Res Paediatr. 2019. PMID: 31865341 Free PMC article. Review.
McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. ...A systematic approach to diagnosis and management is critically important to optimize outcomes for patients with FD/MAS. There are no medical therapies capable o …
McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. ...A systematic approach to dia …
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP, Petryk A, Rush ET, Shoback DM, Ward LM, Polgreen LE. Wu CC, et al. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-3123. doi: 10.1210/jc.2017-01127. J Clin Endocrinol Metab. 2017. PMID: 28655174 Review.
We suggest that calcitriol should not be used in high doses and instead recommend symptom-based supportive therapy for disease complications because noninfantile osteopetrosis has no effective treatment. ...Expert opinion-based guidelines for this rare condition are nevert …
We suggest that calcitriol should not be used in high doses and instead recommend symptom-based supportive therapy for disease compli …
682 results