Cardiac failure associated with McCune-Albright syndrome

Autor: R Mittal, RP Martin

Publikováno v: British journal of hospital medicine (London, England : 2005). 76(10)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1421b48d3cc9947be294fd660e8ccf46
https://pubmed.ncbi.nlm.nih.gov/26457945

EA/LC(04)08 Draft minutes from the first meeting of the EA LC working group on Interlaboratory Comparisons for calibration laboratories Abbreviation Full name AB Agenda point Title Action 1 Approval of the agenda It was decided to deal with point 4 of the agenda before point 3. 2 Terms of reference (EA-02/01-S2)

Autor: Cal, Ea Lc Wgilc, Barel, Andre, Condereys, Antoine, Leitner, Al Arnold, Alexander, Ap, Petrov Cf, Ferrero, Carlo, Gb, Erik Oehlenschlaeger, Boisson, Gabriel, Haf Hans, Hi, Arne Frøystein, Ischi, Hanspeter, Icl Cecilie, Laake Jdv, De, Jan, Vreede Kr, Richter, Karol, Erard, Le Luc, Crossman, Mike, Rp, Martin Matusu, Porres, Rosalina, Rs Risto, Suominen Rsa, Wb, Rune Sandbakken, Bosch, Wolfgang, Bremser, Wolfram

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5fd4e0693e01a883e8c555ce33110706

Neurospora crassa mitochondrial transfer RNAs

Autor: Guy Dirheimer, Jm Schneller, Rp Martin, H Devries, Ajc Stahl, Jc Dejonge

Publikováno v: Biochimica et biophysica acta, 520(2), 419-427

Total mitochondrial tRNA from Neurospora crassa was characterized by base composition analysis, one- and two-dimensional gel electrophoreses and reversed-phase chromatography on RPC5. The guanosine + cytidine content was about 43%, as compared to 60%

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdf5c0cedd89de1495f786257800b66a
https://doi.org/10.1016/0005-2787(78)90239-3

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.

Autor: Marins M; Center for Research and Diagnosis of Genetic Diseases - Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil., Curiati MA; Inborn Errors of Metabolism Reference Center, Department of Pediatrics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Gomes CP; Center for Research and Diagnosis of Genetic Diseases - Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil., Martin RP; Center for Research and Diagnosis of Genetic Diseases - Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Nicolicht-Amorim P; Center for Research and Diagnosis of Genetic Diseases - Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil., Yamamoto JUDS; Laboratory of Inborn Errors of Metabolism, Department of Psychobiology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., D'Almeida V; Laboratory of Inborn Errors of Metabolism, Department of Psychobiology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil. valmeida@unifesp.br., Martins AM; Inborn Errors of Metabolism Reference Center, Department of Pediatrics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil. ni.martins10@gmail.com., Pesquero JB; Center for Research and Diagnosis of Genetic Diseases - Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil. jbpesquero@unifesp.br.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 26; Vol. 19 (1), pp. 439. Date of Electronic Publication: 2024 Nov 26.

Kinin B1 receptor deficiency promotes enhanced adipose tissue thermogenic response to β3-adrenergic stimulation.

Autor: Branquinho J; Center for Research and Molecular Diagnostic of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, São Paulo, SP, Brazil., Neves RL; Center for Research and Molecular Diagnostic of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, São Paulo, SP, Brazil., Martin RP; Center for Research and Molecular Diagnostic of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, São Paulo, SP, Brazil.; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Arata JG; Center for Research and Molecular Diagnostic of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, São Paulo, SP, Brazil., Bittencourt CA; Center for Research and Molecular Diagnostic of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, São Paulo, SP, Brazil., Araújo RC; Department of Biophysics, Federal University of São Paulo, São Paulo, SP, Brazil., Icimoto MY; Department of Biophysics, Federal University of São Paulo, São Paulo, SP, Brazil. icimoto@unifesp.br., Pesquero JB; Center for Research and Molecular Diagnostic of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, São Paulo, SP, Brazil. jbpesquero@unifesp.br.

Publikováno v: Inflammation research : official journal of the European Histamine Research Society ... [et al.] [Inflamm Res] 2024 Sep; Vol. 73 (9), pp. 1565-1579. Date of Electronic Publication: 2024 Jul 17.