Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.

Biegstraaten, M; Cox, T M; Belmatoug, N; Berger, M G; Collin-Histed, T; Vom Dahl, S; Di Rocco, M; Fraga, C; Giona, F; Giraldo, P; Hasanhodzic, M; Hughes, D A; Iversen, P O; Kiewiet, A I; Lukina, E; Machaczka, M; Marinakis, T; Mengel, E; Pastores, G M; Plöckinger, U; Rosenbaum, H; Serratrice, C; Symeonidis, A; Szer, J; Timmerman, J; Tylki-Szymanska, A; Weisz Hubshman, M; Zafeiriou, D I; Zimran, A; Hollak, C E M.

Blood Cells Mol Dis ; 68: 203-208, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-28274788

2.

On fragmenting, densely mineralised acellular protrusions into articular cartilage and their possible role in osteoarthritis.

Boyde, A; Davis, G R; Mills, D; Zikmund, T; Cox, T M; Adams, V L; Niker, A; Wilson, P J; Dillon, J P; Ranganath, L R; Jeffery, N; Jarvis, J C; Gallagher, J A.

J Anat ; 225(4): 436-46, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25132002

3.

B cell lymphoma and myeloma in murine Gaucher's disease.

Pavlova, E V; Wang, S Z; Archer, J; Dekker, N; Aerts, J M F G; Karlsson, S; Cox, T M.

J Pathol ; 231(1): 88-97, 2013 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-23775597

4.

Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease.

Marchesan, D; Cox, T M; Deegan, P B.

J Inherit Metab Dis ; 35(6): 1107-17, 2012 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-22450713

5.

Acute intermittent porphyria: fatal complications of treatment.

Stein, P E; Badminton, M N; Barth, J H; Rees, D C; Sarkany, R; Stewart, M F; Cox, T M.

Clin Med (Lond) ; 12(3): 293-4, 2012 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-22783787

6.

Immune signatures underlying post-acute COVID-19 lung sequelae.

Cheon, I S; Li, C; Son, Y M; Goplen, N P; Wu, Y; Cassmann, T; Wang, Z; Wei, X; Tang, J; Li, Y; Marlow, H; Hughes, S; Hammel, L; Cox, T M; Goddery, E; Ayasoufi, K; Weiskopf, D; Boonyaratanakornkit, J; Dong, H; Li, H; Chakraborty, R; Johnson, A J; Edell, E; Taylor, J J; Kaplan, M H; Sette, A; Bartholmai, B J; Kern, R; Vassallo, R; Sun, J.

Sci Immunol ; 6(65): eabk1741, 2021 Nov 12.

Artigo em Inglês | MEDLINE | ID: mdl-34591653

7.

Dietary modifications in patients receiving miglustat.

Champion, H; Ramaswami, U; Imrie, J; Lachmann, R H; Gallagher, J; Cox, T M; Wraith, J E.

J Inherit Metab Dis ; 33 Suppl 3: S379-83, 2010 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-20844964

8.

A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.

Wang, S Z; Cachón-González, M B; Stein, P E; Lachmann, R H; Corry, P C; Wraith, J E; Cox, T M.

Mol Genet Metab ; 95(4): 236-8, 2008 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-18930675

9.

Haemochromatosis: an inherited metal and toxicity syndrome.

Cox, T M; Kelly, A L.

Curr Opin Genet Dev ; 8(3): 274-81, 1998 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-9691000

10.

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.

Cox, T M; Aerts, J M F G; Belmatoug, N; Cappellini, M D; vom Dahl, S; Goldblatt, J; Grabowski, G A; Hollak, C E M; Hwu, P; Maas, M; Martins, A M; Mistry, P K; Pastores, G M; Tylki-Szymanska, A; Yee, J; Weinreb, N.

J Inherit Metab Dis ; 31(3): 319-36, 2008 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-18509745

11.

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium.

Merryweather-Clarke, A T; Pointon, J J; Shearman, J D; Robson, K J; Jouanolle, A M; Mosser, A; David, V; Le Gall, J Y; Halsall, D J; Elsey, T S; Kelly, A; Cox, T M; Clare, M; Bomford, A; Vandwalle, J L; Rochette, J; Borot, N; Coppin, H; Roth, M P; Ryan, E; Crowe, J; Totaro, A; Gasparini, P; Roetto, A; Walker, A P.

Nat Genet ; 23(3): 271, 1999 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-10545942

12.

Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.

Cox, T M; O'Donnell, M W; Camilleri, M; Burghes, A H.

J Clin Invest ; 72(1): 201-13, 1983 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-6348085

13.

Biosynthesis of the transferrin receptor in rabbit reticulocytes.

Cox, T M; O'Donnell, M W; Aisen, P; London, I M.

J Clin Invest ; 76(6): 2144-50, 1985 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-3001142

14.

Comparing effectiveness of experimental and implemented bycatch reduction measures: the ideal and the real.

Cox, T M; Lewison, R L; Zydelis, R; Crowder, L B; Safina, C; Read, A J.

Conserv Biol ; 21(5): 1155-64, 2007 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-17883481

15.

Iron binding proteins and influx of iron across the duodenal brush border. Evidence for specific lactotransferrin receptors in the human intestine.

Cox, T M; Mazurier, J; Spik, G; Montreuil, J; Peters, T J.

Biochim Biophys Acta ; 588(1): 120-8, 1979 Nov 15.

Artigo em Inglês | MEDLINE | ID: mdl-227471

16.

Basis of unique red cell membrane properties in hereditary ovalocytosis.

Schofield, A E; Tanner, M J; Pinder, J C; Clough, B; Bayley, P M; Nash, G B; Dluzewski, A R; Reardon, D M; Cox, T M; Wilson, R J.

J Mol Biol ; 223(4): 949-58, 1992 Feb 20.

Artigo em Inglês | MEDLINE | ID: mdl-1538405

17.

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.

Kelly, A L; Lunt, P W; Rodrigues, F; Berry, P J; Flynn, D M; McKiernan, P J; Kelly, D A; Mieli-Vergani, G; Cox, T M.

J Med Genet ; 38(9): 599-610, 2001 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-11546828

18.

Biomarkers in lysosomal storage diseases: a review.

Cox, T M.

Acta Paediatr Suppl ; 94(447): 39-42; discussion 37-8, 2005 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-15895710

19.

Substrate reduction therapy for lysosomal storage diseases.

Cox, T M.

Acta Paediatr Suppl ; 94(447): 69-75; discussion 57, 2005 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-15895716

20.

Clinical evaluation of biomarkers in Gaucher disease.

Deegan, P B; Cox, T M.

Acta Paediatr Suppl ; 94(447): 47-50; discussion 37-8, 2005 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-15895712

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