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

Year Number of Results
1964 1
1965 1
1967 1
1968 1
1969 7
1970 4
1971 3
1972 5
1973 4
1974 5
1975 5
1976 7
1977 5
1978 4
1979 9
1980 5
1981 5
1982 4
1983 2
1984 3
1985 4
1986 3
1987 4
1988 5
1989 5
1990 6
1991 4
1992 13
1993 7
1994 5
1995 9
1996 10
1997 13
1998 9
1999 5
2000 14
2001 12
2002 8
2003 8
2004 8
2005 6
2006 7
2007 7
2008 5
2009 3
2010 9
2011 13
2012 11
2013 15
2014 17
2015 19
2016 19
2017 18
2018 17
2019 16
2020 15
2021 9
2022 3
2023 6
2024 4

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413 results

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Quoted phrase not found in phrase index: "Abnormality of mucopolysaccharide metabolism"
Page 1
Transcriptomics Identify Thrombospondin-2 as a Biomarker for NASH and Advanced Liver Fibrosis.
Kozumi K, Kodama T, Murai H, Sakane S, Govaere O, Cockell S, Motooka D, Kakita N, Yamada Y, Kondo Y, Tahata Y, Yamada R, Hikita H, Sakamori R, Kamada Y, Daly AK, Anstee QM, Tatsumi T, Morii E, Takehara T. Kozumi K, et al. Hepatology. 2021 Nov;74(5):2452-2466. doi: 10.1002/hep.31995. Epub 2021 Aug 21. Hepatology. 2021. PMID: 34105780 Free PMC article.
Unsupervised hierarchical clustering well distinguished NASH from nonalcoholic fatty liver (NAFL), and patients with NASH exhibited molecular abnormalities reflecting their pathological features. Transcriptomic analysis identified proteins up-regulated in NASH and/or advan …
Unsupervised hierarchical clustering well distinguished NASH from nonalcoholic fatty liver (NAFL), and patients with NASH exhibited molecula …
A multi-national trial of a direct oral anticoagulant in children with cardiac disease: Design and rationale of the Safety of ApiXaban On Pediatric Heart disease On the preventioN of Embolism (SAXOPHONE) study.
Payne RM, Burns KM, Glatz AC, Li D, Li X, Monagle P, Newburger JW, Swan EA, Wheaton O, Male C; Pediatric Heart Network Investigators. Payne RM, et al. Am Heart J. 2019 Nov;217:52-63. doi: 10.1016/j.ahj.2019.08.002. Epub 2019 Aug 9. Am Heart J. 2019. PMID: 31493728 Free PMC article.
This manuscript describes the design, rationale, and methods of a prospective, randomized, open label phase II multi-national clinical trial of a direct oral anticoagulant (DOAC), apixaban, in children and infants with congenital and acquired heart disease. This trial is d …
This manuscript describes the design, rationale, and methods of a prospective, randomized, open label phase II multi-national clinical trial …
Mucopolysaccharidosis IVA and glycosaminoglycans.
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S. Khan S, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):78-95. doi: 10.1016/j.ymgme.2016.11.007. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27979613 Free PMC article. Review.
Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). ...In patients with MPS IVA, the cartilage is disrupted at birth as a consequence of abnormal chondrogenesis and/or endochond …
Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfat …
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Ital J Pediatr. 2018. PMID: 30442156 Free PMC article. Review.
In the Tuscany-Umbria pilot NBS, eight infants were confirmed positive, and alpha-L-iduronidase (IDUA) gene molecular analysis showed that seven had either homozygosity or compound heterozygosity for pseudodeficiency alleles. p.Ala79Thr and p.His82Gln changes were demonstrated in …
In the Tuscany-Umbria pilot NBS, eight infants were confirmed positive, and alpha-L-iduronidase (IDUA) gene molecular analysis showed that s …
Progeria.
Badame AJ. Badame AJ. Arch Dermatol. 1989 Apr;125(4):540-4. Arch Dermatol. 1989. PMID: 2649013 Review.
The diagnosis rests on the clinical presentation; at present, no treatment has been proved to be effective. Death results from cardiovascular abnormalities in the majority of cases and usually occurs between the ages of 10 and 15 years. ...
The diagnosis rests on the clinical presentation; at present, no treatment has been proved to be effective. Death results from cardiovascula …
Diagnosis of the mucopolysaccharidoses.
Lehman TJ, Miller N, Norquist B, Underhill L, Keutzer J. Lehman TJ, et al. Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v41-8. doi: 10.1093/rheumatology/ker390. Rheumatology (Oxford). 2011. PMID: 22210670 Review.
However, certain types of bone and joint involvement should always prompt consideration of an MPS diagnosis, such as early joint involvement without classic inflammatory features or erosive bone lesions, claw hand, spinal deformities or dysostosis multiplex. All such patients sho …
However, certain types of bone and joint involvement should always prompt consideration of an MPS diagnosis, such as early joint involvement …
Exfoliation syndrome.
Ritch R, Schlötzer-Schrehardt U. Ritch R, et al. Surv Ophthalmol. 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. Surv Ophthalmol. 2001. PMID: 11166342 Review.
Exfoliation syndrome (XFS) is an age-related disease in which abnormal fibrillar extracellular material is produced and accumulates in many ocular tissues. ...Despite extensive research, the exact chemical composition of exfoliation material (XFM) remains unknown. An overp …
Exfoliation syndrome (XFS) is an age-related disease in which abnormal fibrillar extracellular material is produced and accumulates i …
Pregnancy-associated thrombosis.
Pabinger I, Grafenhofer H. Pabinger I, et al. Wien Klin Wochenschr. 2003 Aug 14;115(13-14):482-4. doi: 10.1007/BF03041032. Wien Klin Wochenschr. 2003. PMID: 13677267 Review.
In the general population the incidence of pregnancy associated VTE is approximately 1 in 1500 deliveries The risk of VTE is five times higher in a pregnant than in a non-pregnant woman. Postpartum the VTE-risk is even higher. Women with congenital abnormalities or …
In the general population the incidence of pregnancy associated VTE is approximately 1 in 1500 deliveries The risk of VTE is five times high …
Epilepsy in mucopolysaccharidosis disorders.
Scarpa M, Lourenço CM, Amartino H. Scarpa M, et al. Mol Genet Metab. 2017 Dec;122S:55-61. doi: 10.1016/j.ymgme.2017.10.006. Epub 2017 Oct 16. Mol Genet Metab. 2017. PMID: 29170080 Free article. Review.
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. …
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosam …
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R. Vianey-Saban C, et al. J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. J Inherit Metab Dis. 2016. PMID: 27393412 Review.
Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lysosomal storage disorders (LSDs), cholesterol synthesis disorders (CSDs), glycogen storage disorder type IV (GSD IV), peroxisomal disorders, m …
Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lyso …
413 results