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

Year Number of Results
1989 1
1990 1
1991 1
1994 4
1995 10
1996 4
1997 7
1998 4
1999 4
2000 2
2001 3
2002 3
2003 3
2004 4
2005 3
2006 1
2007 1
2008 3
2009 2
2010 4
2011 2
2012 4
2013 6
2014 3
2015 6
2016 5
2017 7
2018 4
2019 3
2020 8
2021 5
2022 6
2023 6
2024 2

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122 results

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Page 1
Osteogenesis imperfecta: an update on clinical features and therapies.
Marom R, Rabenhorst BM, Morello R. Marom R, et al. Eur J Endocrinol. 2020 Oct;183(4):R95-R106. doi: 10.1530/EJE-20-0299. Eur J Endocrinol. 2020. PMID: 32621590 Free PMC article. Review.
Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. ...Clinically, OI is heterogeneous in features and variable in severity. In addition to the skeletal findings, it can affect multiple systems in …
Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. ...Clinical …
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 …
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM, Legeai-Mallet L. Ornitz DM, et al. Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2. Dev Dyn. 2017. PMID: 27987249 Free PMC article. Review.
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acan …
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in …
Sulphate in pregnancy.
Dawson PA, Elliott A, Bowling FG. Dawson PA, et al. Nutrients. 2015 Mar 4;7(3):1594-606. doi: 10.3390/nu7031594. Nutrients. 2015. PMID: 25746011 Free PMC article. Review.
Dietary sulphate intake can vary greatly and is dependent on the type of food consumed and source of drinking water. Once ingested, sulphate is absorbed into circulation where its level is maintained at approximately 300 mumol/L, making sulphate the fourth most abundant an …
Dietary sulphate intake can vary greatly and is dependent on the type of food consumed and source of drinking water. Once ingested, s …
Osteogenesis imperfecta.
Kocher MS, Shapiro F. Kocher MS, et al. J Am Acad Orthop Surg. 1998 Jul-Aug;6(4):225-36. doi: 10.5435/00124635-199807000-00004. J Am Acad Orthop Surg. 1998. PMID: 9682085 Review.
The disease state encompasses a phenotypically and genotypically heterogeneous group of inherited disorders that result from mutations in the genes that code for type I collagen. The disorder is manifest in tissues in which the principal matrix protein is type I col …
The disease state encompasses a phenotypically and genotypically heterogeneous group of inherited disorders that result from mutations in th …
Sulfate in fetal development.
Dawson PA. Dawson PA. Semin Cell Dev Biol. 2011 Aug;22(6):653-9. doi: 10.1016/j.semcdb.2011.03.004. Epub 2011 Mar 17. Semin Cell Dev Biol. 2011. PMID: 21419855 Review.
Sulfate (SO(4)(2-)) is an important nutrient for human growth and development, and is obtained from the diet and the intra-cellular metabolism of sulfur-containing amino acids, including methionine and cysteine. ...In addition, sulfonation of proteoglycans is important for …
Sulfate (SO(4)(2-)) is an important nutrient for human growth and development, and is obtained from the diet and the intra-cellular m …
Genetics of human isolated acromesomelic dysplasia.
Khan S, Basit S, Khan MA, Muhammad N, Ahmad W. Khan S, et al. Eur J Med Genet. 2016 Apr;59(4):198-203. doi: 10.1016/j.ejmg.2016.02.011. Epub 2016 Feb 27. Eur J Med Genet. 2016. PMID: 26926249 Review.
Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. ...In later case, it shows association with cardiac, respiratory, neurological and genital abnormalities. Acromesomelic dysplasia segregates in …
Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. ...In late …
The type-2 peroxisomal targeting signal.
Kunze M. Kunze M. Biochim Biophys Acta Mol Cell Res. 2020 Feb;1867(2):118609. doi: 10.1016/j.bbamcr.2019.118609. Epub 2019 Nov 18. Biochim Biophys Acta Mol Cell Res. 2020. PMID: 31751594 Free article. Review.
The type-2 peroxisomal targeting signal (PTS2) is one of two peptide motifs destining soluble proteins for peroxisomes. ...
The type-2 peroxisomal targeting signal (PTS2) is one of two peptide motifs destining soluble proteins for peroxisomes. ...
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F. Nitschke Y, et al. Curr Osteoporos Rep. 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. Curr Osteoporos Rep. 2017. PMID: 28585220 Review.
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial cal …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellu …
122 results